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NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 24, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000657203.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)]

NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5496_5506delinsA (p.Val1833fs)
Other names:
5615del11insA
HGVS:
  • NC_000017.11:g.43045764_43045774delinsT
  • NG_005905.2:g.172210_172220delinsA
  • NM_001407571.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407581.1:c.5562_5572delGGTGACCCGAGinsA
  • NM_001407582.1:c.5562_5572delGGTGACCCGAGinsA
  • NM_001407583.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407585.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407587.1:c.5559_5569delGGTGACCCGAGinsA
  • NM_001407590.1:c.5556_5566delGGTGACCCGAGinsA
  • NM_001407591.1:c.5556_5566delGGTGACCCGAGinsA
  • NM_001407593.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407594.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407596.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407597.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407598.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407602.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407603.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407605.1:c.5496_5506delGGTGACCCGAGinsA
  • NM_001407610.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407611.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407612.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407613.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407614.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407615.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407616.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407617.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407618.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407619.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407620.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407621.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407622.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407623.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407624.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407625.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407626.1:c.5493_5503delGGTGACCCGAGinsA
  • NM_001407627.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407628.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407629.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407630.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407631.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407632.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407633.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407634.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407635.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407636.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407637.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407638.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407639.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407640.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407641.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407642.1:c.5490_5500delGGTGACCCGAGinsA
  • NM_001407644.1:c.5487_5497delGGTGACCCGAGinsA
  • NM_001407645.1:c.5487_5497delGGTGACCCGAGinsA
  • NM_001407646.1:c.5484_5494delGGTGACCCGAGinsA
  • NM_001407647.1:c.5481_5491delGGTGACCCGAGinsA
  • NM_001407648.1:c.5439_5449delGGTGACCCGAGinsA
  • NM_001407649.1:c.5436_5446delGGTGACCCGAGinsA
  • NM_001407652.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407653.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407654.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407655.1:c.5418_5428delGGTGACCCGAGinsA
  • NM_001407656.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407657.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407658.1:c.5415_5425delGGTGACCCGAGinsA
  • NM_001407659.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407660.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407661.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407662.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407663.1:c.5412_5422delGGTGACCCGAGinsA
  • NM_001407664.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407665.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407666.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407667.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407668.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407669.1:c.5373_5383delGGTGACCCGAGinsA
  • NM_001407670.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407671.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407672.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407673.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407674.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407675.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407676.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407677.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407678.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407679.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407680.1:c.5370_5380delGGTGACCCGAGinsA
  • NM_001407681.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407682.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407683.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407684.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407685.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407686.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407687.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407688.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407689.1:c.5367_5377delGGTGACCCGAGinsA
  • NM_001407690.1:c.5364_5374delGGTGACCCGAGinsA
  • NM_001407691.1:c.5364_5374delGGTGACCCGAGinsA
  • NM_001407692.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407694.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407695.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407696.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407697.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407698.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407724.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407725.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407726.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407727.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407728.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407729.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407730.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407731.1:c.5355_5365delGGTGACCCGAGinsA
  • NM_001407732.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407733.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407734.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407735.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407736.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407737.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407738.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407739.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407740.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407741.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407742.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407743.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407744.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407745.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407746.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407747.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407748.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407749.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407750.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407751.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407752.1:c.5352_5362delGGTGACCCGAGinsA
  • NM_001407838.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407839.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407841.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407842.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407843.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407844.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407845.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407846.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407847.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407848.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407849.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407850.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407851.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407852.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407853.1:c.5349_5359delGGTGACCCGAGinsA
  • NM_001407854.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407858.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407859.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407860.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407861.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407862.1:c.5295_5305delGGTGACCCGAGinsA
  • NM_001407863.1:c.5292_5302delGGTGACCCGAGinsA
  • NM_001407874.1:c.5289_5299delGGTGACCCGAGinsA
  • NM_001407875.1:c.5289_5299delGGTGACCCGAGinsA
  • NM_001407879.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407881.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407882.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407884.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407885.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407886.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407887.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407889.1:c.5286_5296delGGTGACCCGAGinsA
  • NM_001407894.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407895.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407896.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407897.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407898.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407899.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407900.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407902.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407904.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407906.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407907.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407908.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407909.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407910.1:c.5283_5293delGGTGACCCGAGinsA
  • NM_001407915.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407916.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407917.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407918.1:c.5280_5290delGGTGACCCGAGinsA
  • NM_001407919.1:c.5244_5254delGGTGACCCGAGinsA
  • NM_001407920.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407921.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407922.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407923.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407924.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407925.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407926.1:c.5232_5242delGGTGACCCGAGinsA
  • NM_001407927.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407928.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407929.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407930.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407931.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407932.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407933.1:c.5229_5239delGGTGACCCGAGinsA
  • NM_001407934.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407935.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407936.1:c.5226_5236delGGTGACCCGAGinsA
  • NM_001407937.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407938.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407939.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407940.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407941.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407942.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407943.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407944.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407945.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001407946.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407947.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407948.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407949.1:c.5163_5173delGGTGACCCGAGinsA
  • NM_001407950.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407951.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407952.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407953.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407954.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407955.1:c.5160_5170delGGTGACCCGAGinsA
  • NM_001407956.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407957.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407958.1:c.5157_5167delGGTGACCCGAGinsA
  • NM_001407959.1:c.5115_5125delGGTGACCCGAGinsA
  • NM_001407960.1:c.5112_5122delGGTGACCCGAGinsA
  • NM_001407962.1:c.5112_5122delGGTGACCCGAGinsA
  • NM_001407963.1:c.5109_5119delGGTGACCCGAGinsA
  • NM_001407964.1:c.5034_5044delGGTGACCCGAGinsA
  • NM_001407965.1:c.4989_4999delGGTGACCCGAGinsA
  • NM_001407966.1:c.4608_4618delGGTGACCCGAGinsA
  • NM_001407967.1:c.4605_4615delGGTGACCCGAGinsA
  • NM_001407968.1:c.2892_2902delGGTGACCCGAGinsA
  • NM_001407969.1:c.2889_2899delGGTGACCCGAGinsA
  • NM_001407970.1:c.2253_2263delGGTGACCCGAGinsA
  • NM_001407971.1:c.2253_2263delGGTGACCCGAGinsA
  • NM_001407972.1:c.2250_2260delGGTGACCCGAGinsA
  • NM_001407973.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407974.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407975.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407976.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407977.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407978.1:c.2187_2197delGGTGACCCGAGinsA
  • NM_001407979.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407980.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407981.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407982.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407983.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407984.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407985.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407986.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407990.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407991.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407992.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001407993.1:c.2184_2194delGGTGACCCGAGinsA
  • NM_001408392.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408396.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408397.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408398.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408399.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408400.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408401.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408402.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408403.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408404.1:c.2181_2191delGGTGACCCGAGinsA
  • NM_001408406.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408407.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408408.1:c.2178_2188delGGTGACCCGAGinsA
  • NM_001408409.1:c.2175_2185delGGTGACCCGAGinsA
  • NM_001408410.1:c.2112_2122delGGTGACCCGAGinsA
  • NM_001408411.1:c.2109_2119delGGTGACCCGAGinsA
  • NM_001408412.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408413.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408414.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408415.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408416.1:c.2106_2116delGGTGACCCGAGinsA
  • NM_001408418.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408419.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408420.1:c.2070_2080delGGTGACCCGAGinsA
  • NM_001408421.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408422.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408423.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408424.1:c.2067_2077delGGTGACCCGAGinsA
  • NM_001408425.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408426.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408427.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408428.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408429.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408430.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408431.1:c.2064_2074delGGTGACCCGAGinsA
  • NM_001408432.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408433.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408434.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408435.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408436.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408437.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408438.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408439.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408440.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408441.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408442.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408443.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408444.1:c.2061_2071delGGTGACCCGAGinsA
  • NM_001408445.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408446.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408447.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408448.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408450.1:c.2058_2068delGGTGACCCGAGinsA
  • NM_001408451.1:c.2052_2062delGGTGACCCGAGinsA
  • NM_001408452.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408453.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408454.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408455.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408456.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408457.1:c.2046_2056delGGTGACCCGAGinsA
  • NM_001408458.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408459.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408460.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408461.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408462.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408463.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408464.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408465.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408466.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408467.1:c.2043_2053delGGTGACCCGAGinsA
  • NM_001408468.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408469.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408470.1:c.2040_2050delGGTGACCCGAGinsA
  • NM_001408472.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001408473.1:c.*10_*20delGGTGACCCGAGinsA
  • NM_001408474.1:c.1986_1996delGGTGACCCGAGinsA
  • NM_001408475.1:c.1983_1993delGGTGACCCGAGinsA
  • NM_001408476.1:c.1983_1993delGGTGACCCGAGinsA
  • NM_001408478.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408479.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408480.1:c.1977_1987delGGTGACCCGAGinsA
  • NM_001408481.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408482.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408483.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408484.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408485.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408489.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408490.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408491.1:c.1974_1984delGGTGACCCGAGinsA
  • NM_001408492.1:c.1971_1981delGGTGACCCGAGinsA
  • NM_001408493.1:c.1971_1981delGGTGACCCGAGinsA
  • NM_001408494.1:c.1947_1957delGGTGACCCGAGinsA
  • NM_001408495.1:c.1941_1951delGGTGACCCGAGinsA
  • NM_001408496.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408497.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408498.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408499.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408500.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408501.1:c.1923_1933delGGTGACCCGAGinsA
  • NM_001408502.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408503.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408504.1:c.1920_1930delGGTGACCCGAGinsA
  • NM_001408505.1:c.1917_1927delGGTGACCCGAGinsA
  • NM_001408506.1:c.1860_1870delGGTGACCCGAGinsA
  • NM_001408507.1:c.1857_1867delGGTGACCCGAGinsA
  • NM_001408508.1:c.1848_1858delGGTGACCCGAGinsA
  • NM_001408509.1:c.1845_1855delGGTGACCCGAGinsA
  • NM_001408510.1:c.1806_1816delGGTGACCCGAGinsA
  • NM_001408511.1:c.1803_1813delGGTGACCCGAGinsA
  • NM_001408512.1:c.1683_1693delGGTGACCCGAGinsA
  • NM_001408513.1:c.1656_1666delGGTGACCCGAGinsA
  • NM_001408514.1:c.1260_1270delGGTGACCCGAGinsA
  • NM_007294.4:c.5496_5506delinsAMANE SELECT
  • NM_007297.4:c.5355_5365delinsA
  • NM_007298.4:c.2184_2194delGGTGACCCGAGinsA
  • NM_007299.4:c.*10_*20delinsA
  • NM_007300.4:c.5559_5569delinsA
  • NM_007304.2:c.2184_2194delGGTGACCCGAGinsA
  • NP_001394500.1:p.Val1762Serfs
  • NP_001394510.1:p.Val1855Serfs
  • NP_001394511.1:p.Val1855Serfs
  • NP_001394512.1:p.Val1854Serfs
  • NP_001394514.1:p.Val1854Serfs
  • NP_001394516.1:p.Val1854Serfs
  • NP_001394519.1:p.Val1853Serfs
  • NP_001394520.1:p.Val1853Serfs
  • NP_001394522.1:p.Val1833Serfs
  • NP_001394523.1:p.Val1833Serfs
  • NP_001394525.1:p.Val1833Serfs
  • NP_001394526.1:p.Val1833Serfs
  • NP_001394527.1:p.Val1833Serfs
  • NP_001394531.1:p.Val1833Serfs
  • NP_001394532.1:p.Val1833Serfs
  • NP_001394534.1:p.Val1833Serfs
  • NP_001394539.1:p.Val1832Serfs
  • NP_001394540.1:p.Val1832Serfs
  • NP_001394541.1:p.Val1832Serfs
  • NP_001394542.1:p.Val1832Serfs
  • NP_001394543.1:p.Val1832Serfs
  • NP_001394544.1:p.Val1832Serfs
  • NP_001394545.1:p.Val1832Serfs
  • NP_001394546.1:p.Val1832Serfs
  • NP_001394547.1:p.Val1832Serfs
  • NP_001394548.1:p.Val1832Serfs
  • NP_001394549.1:p.Val1832Serfs
  • NP_001394550.1:p.Val1832Serfs
  • NP_001394551.1:p.Val1832Serfs
  • NP_001394552.1:p.Val1832Serfs
  • NP_001394553.1:p.Val1832Serfs
  • NP_001394554.1:p.Val1832Serfs
  • NP_001394555.1:p.Val1832Serfs
  • NP_001394556.1:p.Val1831Serfs
  • NP_001394557.1:p.Val1831Serfs
  • NP_001394558.1:p.Val1831Serfs
  • NP_001394559.1:p.Val1831Serfs
  • NP_001394560.1:p.Val1831Serfs
  • NP_001394561.1:p.Val1831Serfs
  • NP_001394562.1:p.Val1831Serfs
  • NP_001394563.1:p.Val1831Serfs
  • NP_001394564.1:p.Val1831Serfs
  • NP_001394565.1:p.Val1831Serfs
  • NP_001394566.1:p.Val1831Serfs
  • NP_001394567.1:p.Val1831Serfs
  • NP_001394568.1:p.Val1831Serfs
  • NP_001394569.1:p.Val1831Serfs
  • NP_001394570.1:p.Val1831Serfs
  • NP_001394571.1:p.Val1831Serfs
  • NP_001394573.1:p.Val1830Serfs
  • NP_001394574.1:p.Val1830Serfs
  • NP_001394575.1:p.Val1829Serfs
  • NP_001394576.1:p.Val1828Serfs
  • NP_001394577.1:p.Val1814Serfs
  • NP_001394578.1:p.Val1813Serfs
  • NP_001394581.1:p.Val1807Serfs
  • NP_001394582.1:p.Val1807Serfs
  • NP_001394583.1:p.Val1807Serfs
  • NP_001394584.1:p.Val1807Serfs
  • NP_001394585.1:p.Val1806Serfs
  • NP_001394586.1:p.Val1806Serfs
  • NP_001394587.1:p.Val1806Serfs
  • NP_001394588.1:p.Val1805Serfs
  • NP_001394589.1:p.Val1805Serfs
  • NP_001394590.1:p.Val1805Serfs
  • NP_001394591.1:p.Val1805Serfs
  • NP_001394592.1:p.Val1805Serfs
  • NP_001394593.1:p.Val1792Serfs
  • NP_001394594.1:p.Val1792Serfs
  • NP_001394595.1:p.Val1792Serfs
  • NP_001394596.1:p.Val1792Serfs
  • NP_001394597.1:p.Val1792Serfs
  • NP_001394598.1:p.Val1792Serfs
  • NP_001394599.1:p.Val1791Serfs
  • NP_001394600.1:p.Val1791Serfs
  • NP_001394601.1:p.Val1791Serfs
  • NP_001394602.1:p.Val1791Serfs
  • NP_001394603.1:p.Val1791Serfs
  • NP_001394604.1:p.Val1791Serfs
  • NP_001394605.1:p.Val1791Serfs
  • NP_001394606.1:p.Val1791Serfs
  • NP_001394607.1:p.Val1791Serfs
  • NP_001394608.1:p.Val1791Serfs
  • NP_001394609.1:p.Val1791Serfs
  • NP_001394610.1:p.Val1790Serfs
  • NP_001394611.1:p.Val1790Serfs
  • NP_001394612.1:p.Val1790Serfs
  • NP_001394613.1:p.Val1790Serfs
  • NP_001394614.1:p.Val1790Serfs
  • NP_001394615.1:p.Val1790Serfs
  • NP_001394616.1:p.Val1790Serfs
  • NP_001394617.1:p.Val1790Serfs
  • NP_001394618.1:p.Val1790Serfs
  • NP_001394619.1:p.Val1789Serfs
  • NP_001394620.1:p.Val1789Serfs
  • NP_001394621.1:p.Val1786Serfs
  • NP_001394623.1:p.Val1786Serfs
  • NP_001394624.1:p.Val1786Serfs
  • NP_001394625.1:p.Val1786Serfs
  • NP_001394626.1:p.Val1786Serfs
  • NP_001394627.1:p.Val1786Serfs
  • NP_001394653.1:p.Val1786Serfs
  • NP_001394654.1:p.Val1786Serfs
  • NP_001394655.1:p.Val1786Serfs
  • NP_001394656.1:p.Val1786Serfs
  • NP_001394657.1:p.Val1786Serfs
  • NP_001394658.1:p.Val1786Serfs
  • NP_001394659.1:p.Val1786Serfs
  • NP_001394660.1:p.Val1786Serfs
  • NP_001394661.1:p.Val1785Serfs
  • NP_001394662.1:p.Val1785Serfs
  • NP_001394663.1:p.Val1785Serfs
  • NP_001394664.1:p.Val1785Serfs
  • NP_001394665.1:p.Val1785Serfs
  • NP_001394666.1:p.Val1785Serfs
  • NP_001394667.1:p.Val1785Serfs
  • NP_001394668.1:p.Val1785Serfs
  • NP_001394669.1:p.Val1785Serfs
  • NP_001394670.1:p.Val1785Serfs
  • NP_001394671.1:p.Val1785Serfs
  • NP_001394672.1:p.Val1785Serfs
  • NP_001394673.1:p.Val1785Serfs
  • NP_001394674.1:p.Val1785Serfs
  • NP_001394675.1:p.Val1785Serfs
  • NP_001394676.1:p.Val1785Serfs
  • NP_001394677.1:p.Val1785Serfs
  • NP_001394678.1:p.Val1785Serfs
  • NP_001394679.1:p.Val1785Serfs
  • NP_001394680.1:p.Val1785Serfs
  • NP_001394681.1:p.Val1785Serfs
  • NP_001394767.1:p.Val1784Serfs
  • NP_001394768.1:p.Val1784Serfs
  • NP_001394770.1:p.Val1784Serfs
  • NP_001394771.1:p.Val1784Serfs
  • NP_001394772.1:p.Val1784Serfs
  • NP_001394773.1:p.Val1784Serfs
  • NP_001394774.1:p.Val1784Serfs
  • NP_001394775.1:p.Val1784Serfs
  • NP_001394776.1:p.Val1784Serfs
  • NP_001394777.1:p.Val1784Serfs
  • NP_001394778.1:p.Val1784Serfs
  • NP_001394779.1:p.Val1784Serfs
  • NP_001394780.1:p.Val1784Serfs
  • NP_001394781.1:p.Val1784Serfs
  • NP_001394782.1:p.Val1784Serfs
  • NP_001394791.1:p.Val1766Serfs
  • NP_001394792.1:p.Val1765Serfs
  • NP_001394803.1:p.Val1764Serfs
  • NP_001394804.1:p.Val1764Serfs
  • NP_001394808.1:p.Val1763Serfs
  • NP_001394810.1:p.Val1763Serfs
  • NP_001394811.1:p.Val1763Serfs
  • NP_001394813.1:p.Val1763Serfs
  • NP_001394814.1:p.Val1763Serfs
  • NP_001394815.1:p.Val1763Serfs
  • NP_001394816.1:p.Val1763Serfs
  • NP_001394818.1:p.Val1763Serfs
  • NP_001394823.1:p.Val1762Serfs
  • NP_001394824.1:p.Val1762Serfs
  • NP_001394825.1:p.Val1762Serfs
  • NP_001394826.1:p.Val1762Serfs
  • NP_001394827.1:p.Val1762Serfs
  • NP_001394828.1:p.Val1762Serfs
  • NP_001394829.1:p.Val1762Serfs
  • NP_001394831.1:p.Val1762Serfs
  • NP_001394833.1:p.Val1762Serfs
  • NP_001394835.1:p.Val1762Serfs
  • NP_001394836.1:p.Val1762Serfs
  • NP_001394837.1:p.Val1762Serfs
  • NP_001394838.1:p.Val1762Serfs
  • NP_001394839.1:p.Val1762Serfs
  • NP_001394844.1:p.Val1761Serfs
  • NP_001394845.1:p.Val1761Serfs
  • NP_001394846.1:p.Val1761Serfs
  • NP_001394847.1:p.Val1761Serfs
  • NP_001394848.1:p.Val1749Serfs
  • NP_001394849.1:p.Val1745Serfs
  • NP_001394850.1:p.Val1745Serfs
  • NP_001394851.1:p.Val1745Serfs
  • NP_001394852.1:p.Val1745Serfs
  • NP_001394853.1:p.Val1745Serfs
  • NP_001394854.1:p.Val1745Serfs
  • NP_001394855.1:p.Val1745Serfs
  • NP_001394856.1:p.Val1744Serfs
  • NP_001394857.1:p.Val1744Serfs
  • NP_001394858.1:p.Val1744Serfs
  • NP_001394859.1:p.Val1744Serfs
  • NP_001394860.1:p.Val1744Serfs
  • NP_001394861.1:p.Val1744Serfs
  • NP_001394862.1:p.Val1744Serfs
  • NP_001394863.1:p.Val1743Serfs
  • NP_001394864.1:p.Val1743Serfs
  • NP_001394865.1:p.Val1743Serfs
  • NP_001394875.1:p.Val1722Serfs
  • NP_001394876.1:p.Val1722Serfs
  • NP_001394877.1:p.Val1722Serfs
  • NP_001394878.1:p.Val1722Serfs
  • NP_001394879.1:p.Val1721Serfs
  • NP_001394880.1:p.Val1721Serfs
  • NP_001394881.1:p.Val1721Serfs
  • NP_001394882.1:p.Val1721Serfs
  • NP_001394883.1:p.Val1721Serfs
  • NP_001394884.1:p.Val1721Serfs
  • NP_001394885.1:p.Val1720Serfs
  • NP_001394886.1:p.Val1720Serfs
  • NP_001394887.1:p.Val1720Serfs
  • NP_001394888.1:p.Val1706Serfs
  • NP_001394889.1:p.Val1705Serfs
  • NP_001394891.1:p.Val1705Serfs
  • NP_001394892.1:p.Val1704Serfs
  • NP_001394893.1:p.Val1679Serfs
  • NP_001394894.1:p.Val1664Serfs
  • NP_001394895.1:p.Val1537Serfs
  • NP_001394896.1:p.Val1536Serfs
  • NP_001394897.1:p.Val965Serfs
  • NP_001394898.1:p.Val964Serfs
  • NP_001394899.1:p.Val752Serfs
  • NP_001394900.1:p.Val752Serfs
  • NP_001394901.1:p.Val751Serfs
  • NP_001394902.1:p.Val730Serfs
  • NP_001394903.1:p.Val730Serfs
  • NP_001394904.1:p.Val730Serfs
  • NP_001394905.1:p.Val730Serfs
  • NP_001394906.1:p.Val730Serfs
  • NP_001394907.1:p.Val730Serfs
  • NP_001394908.1:p.Val729Serfs
  • NP_001394909.1:p.Val729Serfs
  • NP_001394910.1:p.Val729Serfs
  • NP_001394911.1:p.Val729Serfs
  • NP_001394912.1:p.Val729Serfs
  • NP_001394913.1:p.Val729Serfs
  • NP_001394914.1:p.Val729Serfs
  • NP_001394915.1:p.Val729Serfs
  • NP_001394919.1:p.Val729Serfs
  • NP_001394920.1:p.Val729Serfs
  • NP_001394921.1:p.Val729Serfs
  • NP_001394922.1:p.Val729Serfs
  • NP_001395321.1:p.Val728Serfs
  • NP_001395325.1:p.Val728Serfs
  • NP_001395326.1:p.Val728Serfs
  • NP_001395327.1:p.Val728Serfs
  • NP_001395328.1:p.Val728Serfs
  • NP_001395329.1:p.Val728Serfs
  • NP_001395330.1:p.Val728Serfs
  • NP_001395331.1:p.Val728Serfs
  • NP_001395332.1:p.Val728Serfs
  • NP_001395333.1:p.Val728Serfs
  • NP_001395335.1:p.Val727Serfs
  • NP_001395336.1:p.Val727Serfs
  • NP_001395337.1:p.Val727Serfs
  • NP_001395338.1:p.Val726Serfs
  • NP_001395339.1:p.Val705Serfs
  • NP_001395340.1:p.Val704Serfs
  • NP_001395341.1:p.Val703Serfs
  • NP_001395342.1:p.Val703Serfs
  • NP_001395343.1:p.Val703Serfs
  • NP_001395344.1:p.Val703Serfs
  • NP_001395345.1:p.Val703Serfs
  • NP_001395347.1:p.Val691Serfs
  • NP_001395348.1:p.Val691Serfs
  • NP_001395349.1:p.Val691Serfs
  • NP_001395350.1:p.Val690Serfs
  • NP_001395351.1:p.Val690Serfs
  • NP_001395352.1:p.Val690Serfs
  • NP_001395353.1:p.Val690Serfs
  • NP_001395354.1:p.Val689Serfs
  • NP_001395355.1:p.Val689Serfs
  • NP_001395356.1:p.Val689Serfs
  • NP_001395357.1:p.Val689Serfs
  • NP_001395358.1:p.Val689Serfs
  • NP_001395359.1:p.Val689Serfs
  • NP_001395360.1:p.Val689Serfs
  • NP_001395361.1:p.Val688Serfs
  • NP_001395362.1:p.Val688Serfs
  • NP_001395363.1:p.Val688Serfs
  • NP_001395364.1:p.Val688Serfs
  • NP_001395365.1:p.Val688Serfs
  • NP_001395366.1:p.Val688Serfs
  • NP_001395367.1:p.Val688Serfs
  • NP_001395368.1:p.Val688Serfs
  • NP_001395369.1:p.Val688Serfs
  • NP_001395370.1:p.Val688Serfs
  • NP_001395371.1:p.Val688Serfs
  • NP_001395372.1:p.Val688Serfs
  • NP_001395373.1:p.Val688Serfs
  • NP_001395374.1:p.Val687Serfs
  • NP_001395375.1:p.Val687Serfs
  • NP_001395376.1:p.Val687Serfs
  • NP_001395377.1:p.Val687Serfs
  • NP_001395379.1:p.Val687Serfs
  • NP_001395380.1:p.Val685Serfs
  • NP_001395381.1:p.Val683Serfs
  • NP_001395382.1:p.Val683Serfs
  • NP_001395383.1:p.Val683Serfs
  • NP_001395384.1:p.Val683Serfs
  • NP_001395385.1:p.Val683Serfs
  • NP_001395386.1:p.Val683Serfs
  • NP_001395387.1:p.Val682Serfs
  • NP_001395388.1:p.Val682Serfs
  • NP_001395389.1:p.Val682Serfs
  • NP_001395390.1:p.Val682Serfs
  • NP_001395391.1:p.Val682Serfs
  • NP_001395392.1:p.Val682Serfs
  • NP_001395393.1:p.Val682Serfs
  • NP_001395394.1:p.Val682Serfs
  • NP_001395395.1:p.Val682Serfs
  • NP_001395396.1:p.Val682Serfs
  • NP_001395397.1:p.Val681Serfs
  • NP_001395398.1:p.Val681Serfs
  • NP_001395399.1:p.Val681Serfs
  • NP_001395403.1:p.Val663Serfs
  • NP_001395404.1:p.Val662Serfs
  • NP_001395405.1:p.Val662Serfs
  • NP_001395407.1:p.Val660Serfs
  • NP_001395408.1:p.Val660Serfs
  • NP_001395409.1:p.Val660Serfs
  • NP_001395410.1:p.Val659Serfs
  • NP_001395411.1:p.Val659Serfs
  • NP_001395412.1:p.Val659Serfs
  • NP_001395413.1:p.Val659Serfs
  • NP_001395414.1:p.Val659Serfs
  • NP_001395418.1:p.Val659Serfs
  • NP_001395419.1:p.Val659Serfs
  • NP_001395420.1:p.Val659Serfs
  • NP_001395421.1:p.Val658Serfs
  • NP_001395422.1:p.Val658Serfs
  • NP_001395423.1:p.Val650Serfs
  • NP_001395424.1:p.Val648Serfs
  • NP_001395425.1:p.Val642Serfs
  • NP_001395426.1:p.Val642Serfs
  • NP_001395427.1:p.Val642Serfs
  • NP_001395428.1:p.Val642Serfs
  • NP_001395429.1:p.Val642Serfs
  • NP_001395430.1:p.Val642Serfs
  • NP_001395431.1:p.Val641Serfs
  • NP_001395432.1:p.Val641Serfs
  • NP_001395433.1:p.Val641Serfs
  • NP_001395434.1:p.Val640Serfs
  • NP_001395435.1:p.Val621Serfs
  • NP_001395436.1:p.Val620Serfs
  • NP_001395437.1:p.Val617Serfs
  • NP_001395438.1:p.Val616Serfs
  • NP_001395439.1:p.Val603Serfs
  • NP_001395440.1:p.Val602Serfs
  • NP_001395441.1:p.Val562Serfs
  • NP_001395442.1:p.Val553Serfs
  • NP_001395443.1:p.Val421Serfs
  • NP_009225.1:p.Val1833Serfs
  • NP_009225.1:p.Val1833fs
  • NP_009228.2:p.Val1786fs
  • NP_009229.2:p.Val729Serfs
  • NP_009229.2:p.Val729fs
  • NP_009231.2:p.Val1854fs
  • NP_009235.2:p.Val729Serfs
  • LRG_292t1:c.5496_5506delGGTGACCCGAGinsA
  • LRG_292:g.172210_172220delinsA
  • LRG_292p1:p.Val1833Serfs
  • NC_000017.10:g.41197781_41197791delinsT
  • NM_007294.3:c.5496_5506del11insA
  • NM_007294.3:c.5496_5506del11insA
  • NM_007294.3:c.5496_5506delGGTGACCCGAGinsA
  • NM_007294.3:c.5496_5506delGGTGACCCGAGinsA
  • NM_007298.3:c.2184_2194delinsA
  • NR_027676.2:n.5673_5683delinsA
  • U14680.1:n.5615_5625delGGTGACCCGAGinsA
  • p.(Val1833SerfsTer7)
Protein change:
V1786fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5615&base_change=del GGTGACCCGAG ins A; dbSNP: rs273902775
NCBI 1000 Genomes Browser:
rs273902775
Molecular consequence:
  • NM_007299.4:c.*10_*20delinsA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5562_5572delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5562_5572delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5559_5569delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5556_5566delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5556_5566delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5496_5506delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5493_5503delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5490_5500delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5487_5497delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5487_5497delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5484_5494delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5481_5491delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5439_5449delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5436_5446delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5418_5428delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5415_5425delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5412_5422delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5373_5383delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5370_5380delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5367_5377delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5364_5374delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5364_5374delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5355_5365delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5352_5362delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5349_5359delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5295_5305delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5292_5302delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5289_5299delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5289_5299delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5286_5296delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5283_5293delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5280_5290delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5244_5254delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5232_5242delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5229_5239delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5226_5236delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5163_5173delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5160_5170delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5157_5167delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5115_5125delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5112_5122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5112_5122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5109_5119delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.5034_5044delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4989_4999delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4608_4618delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4605_4615delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2892_2902delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2889_2899delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2253_2263delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2253_2263delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2250_2260delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2187_2197delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2181_2191delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2178_2188delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2175_2185delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2112_2122delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2109_2119delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2106_2116delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.2070_2080delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.2067_2077delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.2064_2074delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.2061_2071delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.2058_2068delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.2052_2062delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2046_2056delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2043_2053delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2040_2050delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1986_1996delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1983_1993delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1983_1993delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1977_1987delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1974_1984delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1971_1981delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1971_1981delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1947_1957delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1941_1951delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1923_1933delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1920_1930delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1917_1927delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1860_1870delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1857_1867delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1848_1858delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1845_1855delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1806_1816delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1803_1813delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1683_1693delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1656_1666delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1260_1270delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5496_5506delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5355_5365delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5559_5569delinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2184_2194delGGTGACCCGAGinsA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5673_5683delinsA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778929GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 24, 2017) 		germlineclinical testing

Citation Link,

SCV000888949Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 24, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000778929.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This combined deletion and insertion is denoted BRCA1 c.5496_5506del11insA at the cDNA level and p.Val1833SerfsX7 (V1833SfsX7) at the protein level. The surrounding sequence is CTGT[del11][insA]AGTG. The variant causes a frameshift, which changes a Valine to a Serine at codon 1833, and creates a premature stop codon at position 7 of the new reading frame. Due to the position of the variant, nonsense mediated decay is not expected to occur, but the variant might cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene includes a portion of the BRCT2 domain and a region known to interact with multiple proteins (Paul 2014, UniProt). BRCA1 c.5496_5506del11insA has been observed in multiple breast and/or ovarian cancer families and has been reported as a possible Korean founder variant (Ahn 2007, Seong 2009, Han 2011, Jang 2012, Kim 2012, Kim 2017). Based on currently available information, we consider this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888949.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024