NM_007294.4(BRCA1):c.5013_5015del (p.Lys1671_His1672delinsAsn) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2018
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV002351383.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.5013_5015del (p.Lys1671_His1672delinsAsn)]
NM_007294.4(BRCA1):c.5013_5015del (p.Lys1671_His1672delinsAsn)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Deletion
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.5013_5015del (p.Lys1671_His1672delinsAsn)
- HGVS:
- NC_000017.11:g.43067668_43067670del
- NG_005905.2:g.150315_150317del
- NM_001407571.1:c.4799_4801delAAC
- NM_001407581.1:c.5078_5080delAAC
- NM_001407582.1:c.5078_5080delAAC
- NM_001407583.1:c.5075_5077delAAC
- NM_001407585.1:c.5075_5077delAAC
- NM_001407587.1:c.5075_5077delAAC
- NM_001407590.1:c.5072_5074delAAC
- NM_001407591.1:c.5072_5074delAAC
- NM_001407593.1:c.5012_5014delAAC
- NM_001407594.1:c.5012_5014delAAC
- NM_001407596.1:c.5012_5014delAAC
- NM_001407597.1:c.5012_5014delAAC
- NM_001407598.1:c.5012_5014delAAC
- NM_001407602.1:c.5012_5014delAAC
- NM_001407603.1:c.5012_5014delAAC
- NM_001407605.1:c.5012_5014delAAC
- NM_001407610.1:c.5009_5011delAAC
- NM_001407611.1:c.5009_5011delAAC
- NM_001407612.1:c.5009_5011delAAC
- NM_001407613.1:c.5009_5011delAAC
- NM_001407614.1:c.5009_5011delAAC
- NM_001407615.1:c.5009_5011delAAC
- NM_001407616.1:c.5009_5011delAAC
- NM_001407617.1:c.5009_5011delAAC
- NM_001407618.1:c.5009_5011delAAC
- NM_001407619.1:c.5009_5011delAAC
- NM_001407620.1:c.5009_5011delAAC
- NM_001407621.1:c.5009_5011delAAC
- NM_001407622.1:c.5009_5011delAAC
- NM_001407623.1:c.5009_5011delAAC
- NM_001407624.1:c.5009_5011delAAC
- NM_001407625.1:c.5009_5011delAAC
- NM_001407626.1:c.5009_5011delAAC
- NM_001407627.1:c.5006_5008delAAC
- NM_001407628.1:c.5006_5008delAAC
- NM_001407629.1:c.5006_5008delAAC
- NM_001407630.1:c.5006_5008delAAC
- NM_001407631.1:c.5006_5008delAAC
- NM_001407632.1:c.5006_5008delAAC
- NM_001407633.1:c.5006_5008delAAC
- NM_001407634.1:c.5006_5008delAAC
- NM_001407635.1:c.5006_5008delAAC
- NM_001407636.1:c.5006_5008delAAC
- NM_001407637.1:c.5006_5008delAAC
- NM_001407638.1:c.5006_5008delAAC
- NM_001407639.1:c.5006_5008delAAC
- NM_001407640.1:c.5006_5008delAAC
- NM_001407641.1:c.5006_5008delAAC
- NM_001407642.1:c.5006_5008delAAC
- NM_001407644.1:c.5003_5005delAAC
- NM_001407645.1:c.5003_5005delAAC
- NM_001407646.1:c.5000_5002delAAC
- NM_001407647.1:c.4997_4999delAAC
- NM_001407648.1:c.4955_4957delAAC
- NM_001407649.1:c.4952_4954delAAC
- NM_001407652.1:c.5012_5014delAAC
- NM_001407653.1:c.4934_4936delAAC
- NM_001407654.1:c.4934_4936delAAC
- NM_001407655.1:c.4934_4936delAAC
- NM_001407656.1:c.4931_4933delAAC
- NM_001407657.1:c.4931_4933delAAC
- NM_001407658.1:c.4931_4933delAAC
- NM_001407659.1:c.4928_4930delAAC
- NM_001407660.1:c.4928_4930delAAC
- NM_001407661.1:c.4928_4930delAAC
- NM_001407662.1:c.4928_4930delAAC
- NM_001407663.1:c.4928_4930delAAC
- NM_001407664.1:c.4889_4891delAAC
- NM_001407665.1:c.4889_4891delAAC
- NM_001407666.1:c.4889_4891delAAC
- NM_001407667.1:c.4889_4891delAAC
- NM_001407668.1:c.4889_4891delAAC
- NM_001407669.1:c.4889_4891delAAC
- NM_001407670.1:c.4886_4888delAAC
- NM_001407671.1:c.4886_4888delAAC
- NM_001407672.1:c.4886_4888delAAC
- NM_001407673.1:c.4886_4888delAAC
- NM_001407674.1:c.4886_4888delAAC
- NM_001407675.1:c.4886_4888delAAC
- NM_001407676.1:c.4886_4888delAAC
- NM_001407677.1:c.4886_4888delAAC
- NM_001407678.1:c.4886_4888delAAC
- NM_001407679.1:c.4886_4888delAAC
- NM_001407680.1:c.4886_4888delAAC
- NM_001407681.1:c.4883_4885delAAC
- NM_001407682.1:c.4883_4885delAAC
- NM_001407683.1:c.4883_4885delAAC
- NM_001407684.1:c.5012_5014delAAC
- NM_001407685.1:c.4883_4885delAAC
- NM_001407686.1:c.4883_4885delAAC
- NM_001407687.1:c.4883_4885delAAC
- NM_001407688.1:c.4883_4885delAAC
- NM_001407689.1:c.4883_4885delAAC
- NM_001407690.1:c.4880_4882delAAC
- NM_001407691.1:c.4880_4882delAAC
- NM_001407692.1:c.4871_4873delAAC
- NM_001407694.1:c.4871_4873delAAC
- NM_001407695.1:c.4871_4873delAAC
- NM_001407696.1:c.4871_4873delAAC
- NM_001407697.1:c.4871_4873delAAC
- NM_001407698.1:c.4871_4873delAAC
- NM_001407724.1:c.4871_4873delAAC
- NM_001407725.1:c.4871_4873delAAC
- NM_001407726.1:c.4871_4873delAAC
- NM_001407727.1:c.4871_4873delAAC
- NM_001407728.1:c.4871_4873delAAC
- NM_001407729.1:c.4871_4873delAAC
- NM_001407730.1:c.4871_4873delAAC
- NM_001407731.1:c.4871_4873delAAC
- NM_001407732.1:c.4868_4870delAAC
- NM_001407733.1:c.4868_4870delAAC
- NM_001407734.1:c.4868_4870delAAC
- NM_001407735.1:c.4868_4870delAAC
- NM_001407736.1:c.4868_4870delAAC
- NM_001407737.1:c.4868_4870delAAC
- NM_001407738.1:c.4868_4870delAAC
- NM_001407739.1:c.4868_4870delAAC
- NM_001407740.1:c.4868_4870delAAC
- NM_001407741.1:c.4868_4870delAAC
- NM_001407742.1:c.4868_4870delAAC
- NM_001407743.1:c.4868_4870delAAC
- NM_001407744.1:c.4868_4870delAAC
- NM_001407745.1:c.4868_4870delAAC
- NM_001407746.1:c.4868_4870delAAC
- NM_001407747.1:c.4868_4870delAAC
- NM_001407748.1:c.4868_4870delAAC
- NM_001407749.1:c.4868_4870delAAC
- NM_001407750.1:c.4868_4870delAAC
- NM_001407751.1:c.4868_4870delAAC
- NM_001407752.1:c.4868_4870delAAC
- NM_001407838.1:c.4865_4867delAAC
- NM_001407839.1:c.4865_4867delAAC
- NM_001407841.1:c.4865_4867delAAC
- NM_001407842.1:c.4865_4867delAAC
- NM_001407843.1:c.4865_4867delAAC
- NM_001407844.1:c.4865_4867delAAC
- NM_001407845.1:c.4865_4867delAAC
- NM_001407846.1:c.4865_4867delAAC
- NM_001407847.1:c.4865_4867delAAC
- NM_001407848.1:c.4865_4867delAAC
- NM_001407849.1:c.4865_4867delAAC
- NM_001407850.1:c.4865_4867delAAC
- NM_001407851.1:c.4865_4867delAAC
- NM_001407852.1:c.4865_4867delAAC
- NM_001407853.1:c.4865_4867delAAC
- NM_001407854.1:c.5012_5014delAAC
- NM_001407858.1:c.5009_5011delAAC
- NM_001407859.1:c.5009_5011delAAC
- NM_001407860.1:c.5009_5011delAAC
- NM_001407861.1:c.5006_5008delAAC
- NM_001407862.1:c.4811_4813delAAC
- NM_001407863.1:c.4886_4888delAAC
- NM_001407874.1:c.4805_4807delAAC
- NM_001407875.1:c.4805_4807delAAC
- NM_001407879.1:c.4802_4804delAAC
- NM_001407881.1:c.4802_4804delAAC
- NM_001407882.1:c.4802_4804delAAC
- NM_001407884.1:c.4802_4804delAAC
- NM_001407885.1:c.4802_4804delAAC
- NM_001407886.1:c.4802_4804delAAC
- NM_001407887.1:c.4802_4804delAAC
- NM_001407889.1:c.4802_4804delAAC
- NM_001407894.1:c.4799_4801delAAC
- NM_001407895.1:c.4799_4801delAAC
- NM_001407896.1:c.4799_4801delAAC
- NM_001407897.1:c.4799_4801delAAC
- NM_001407898.1:c.4799_4801delAAC
- NM_001407899.1:c.4799_4801delAAC
- NM_001407900.1:c.4799_4801delAAC
- NM_001407902.1:c.4799_4801delAAC
- NM_001407904.1:c.4799_4801delAAC
- NM_001407906.1:c.4799_4801delAAC
- NM_001407907.1:c.4799_4801delAAC
- NM_001407908.1:c.4799_4801delAAC
- NM_001407909.1:c.4799_4801delAAC
- NM_001407910.1:c.4799_4801delAAC
- NM_001407915.1:c.4796_4798delAAC
- NM_001407916.1:c.4796_4798delAAC
- NM_001407917.1:c.4796_4798delAAC
- NM_001407918.1:c.4796_4798delAAC
- NM_001407919.1:c.4889_4891delAAC
- NM_001407920.1:c.4748_4750delAAC
- NM_001407921.1:c.4748_4750delAAC
- NM_001407922.1:c.4748_4750delAAC
- NM_001407923.1:c.4748_4750delAAC
- NM_001407924.1:c.4748_4750delAAC
- NM_001407925.1:c.4748_4750delAAC
- NM_001407926.1:c.4748_4750delAAC
- NM_001407927.1:c.4745_4747delAAC
- NM_001407928.1:c.4745_4747delAAC
- NM_001407929.1:c.4745_4747delAAC
- NM_001407930.1:c.4745_4747delAAC
- NM_001407931.1:c.4745_4747delAAC
- NM_001407932.1:c.4745_4747delAAC
- NM_001407933.1:c.4745_4747delAAC
- NM_001407934.1:c.4742_4744delAAC
- NM_001407935.1:c.4742_4744delAAC
- NM_001407936.1:c.4742_4744delAAC
- NM_001407937.1:c.4889_4891delAAC
- NM_001407938.1:c.4889_4891delAAC
- NM_001407939.1:c.4886_4888delAAC
- NM_001407940.1:c.4886_4888delAAC
- NM_001407941.1:c.4883_4885delAAC
- NM_001407942.1:c.4871_4873delAAC
- NM_001407943.1:c.4868_4870delAAC
- NM_001407944.1:c.4868_4870delAAC
- NM_001407945.1:c.4868_4870delAAC
- NM_001407946.1:c.4679_4681delAAC
- NM_001407947.1:c.4679_4681delAAC
- NM_001407948.1:c.4679_4681delAAC
- NM_001407949.1:c.4679_4681delAAC
- NM_001407950.1:c.4676_4678delAAC
- NM_001407951.1:c.4676_4678delAAC
- NM_001407952.1:c.4676_4678delAAC
- NM_001407953.1:c.4676_4678delAAC
- NM_001407954.1:c.4676_4678delAAC
- NM_001407955.1:c.4676_4678delAAC
- NM_001407956.1:c.4673_4675delAAC
- NM_001407957.1:c.4673_4675delAAC
- NM_001407958.1:c.4673_4675delAAC
- NM_001407959.1:c.4631_4633delAAC
- NM_001407960.1:c.4628_4630delAAC
- NM_001407962.1:c.4628_4630delAAC
- NM_001407963.1:c.4625_4627delAAC
- NM_001407964.1:c.4550_4552delAAC
- NM_001407965.1:c.4505_4507delAAC
- NM_001407966.1:c.4124_4126delAAC
- NM_001407967.1:c.4121_4123delAAC
- NM_001407968.1:c.2408_2410delAAC
- NM_001407969.1:c.2405_2407delAAC
- NM_001407970.1:c.1769_1771delAAC
- NM_001407971.1:c.1769_1771delAAC
- NM_001407972.1:c.1766_1768delAAC
- NM_001407973.1:c.1703_1705delAAC
- NM_001407974.1:c.1703_1705delAAC
- NM_001407975.1:c.1703_1705delAAC
- NM_001407976.1:c.1703_1705delAAC
- NM_001407977.1:c.1703_1705delAAC
- NM_001407978.1:c.1703_1705delAAC
- NM_001407979.1:c.1700_1702delAAC
- NM_001407980.1:c.1700_1702delAAC
- NM_001407981.1:c.1700_1702delAAC
- NM_001407982.1:c.1700_1702delAAC
- NM_001407983.1:c.1700_1702delAAC
- NM_001407984.1:c.1700_1702delAAC
- NM_001407985.1:c.1700_1702delAAC
- NM_001407986.1:c.1700_1702delAAC
- NM_001407990.1:c.1700_1702delAAC
- NM_001407991.1:c.1700_1702delAAC
- NM_001407992.1:c.1700_1702delAAC
- NM_001407993.1:c.1700_1702delAAC
- NM_001408392.1:c.1697_1699delAAC
- NM_001408396.1:c.1697_1699delAAC
- NM_001408397.1:c.1697_1699delAAC
- NM_001408398.1:c.1697_1699delAAC
- NM_001408399.1:c.1697_1699delAAC
- NM_001408400.1:c.1697_1699delAAC
- NM_001408401.1:c.1697_1699delAAC
- NM_001408402.1:c.1697_1699delAAC
- NM_001408403.1:c.1697_1699delAAC
- NM_001408404.1:c.1697_1699delAAC
- NM_001408406.1:c.1694_1696delAAC
- NM_001408407.1:c.1694_1696delAAC
- NM_001408408.1:c.1694_1696delAAC
- NM_001408409.1:c.1691_1693delAAC
- NM_001408410.1:c.1628_1630delAAC
- NM_001408411.1:c.1625_1627delAAC
- NM_001408412.1:c.1622_1624delAAC
- NM_001408413.1:c.1622_1624delAAC
- NM_001408414.1:c.1622_1624delAAC
- NM_001408415.1:c.1622_1624delAAC
- NM_001408416.1:c.1622_1624delAAC
- NM_001408418.1:c.1586_1588delAAC
- NM_001408419.1:c.1586_1588delAAC
- NM_001408420.1:c.1586_1588delAAC
- NM_001408421.1:c.1583_1585delAAC
- NM_001408422.1:c.1583_1585delAAC
- NM_001408423.1:c.1583_1585delAAC
- NM_001408424.1:c.1583_1585delAAC
- NM_001408425.1:c.1580_1582delAAC
- NM_001408426.1:c.1580_1582delAAC
- NM_001408427.1:c.1580_1582delAAC
- NM_001408428.1:c.1580_1582delAAC
- NM_001408429.1:c.1580_1582delAAC
- NM_001408430.1:c.1580_1582delAAC
- NM_001408431.1:c.1580_1582delAAC
- NM_001408432.1:c.1577_1579delAAC
- NM_001408433.1:c.1577_1579delAAC
- NM_001408434.1:c.1577_1579delAAC
- NM_001408435.1:c.1577_1579delAAC
- NM_001408436.1:c.1577_1579delAAC
- NM_001408437.1:c.1577_1579delAAC
- NM_001408438.1:c.1577_1579delAAC
- NM_001408439.1:c.1577_1579delAAC
- NM_001408440.1:c.1577_1579delAAC
- NM_001408441.1:c.1577_1579delAAC
- NM_001408442.1:c.1577_1579delAAC
- NM_001408443.1:c.1577_1579delAAC
- NM_001408444.1:c.1577_1579delAAC
- NM_001408445.1:c.1574_1576delAAC
- NM_001408446.1:c.1574_1576delAAC
- NM_001408447.1:c.1574_1576delAAC
- NM_001408448.1:c.1574_1576delAAC
- NM_001408450.1:c.1574_1576delAAC
- NM_001408451.1:c.1568_1570delAAC
- NM_001408452.1:c.1562_1564delAAC
- NM_001408453.1:c.1562_1564delAAC
- NM_001408454.1:c.1562_1564delAAC
- NM_001408455.1:c.1562_1564delAAC
- NM_001408456.1:c.1562_1564delAAC
- NM_001408457.1:c.1562_1564delAAC
- NM_001408458.1:c.1559_1561delAAC
- NM_001408459.1:c.1559_1561delAAC
- NM_001408460.1:c.1559_1561delAAC
- NM_001408461.1:c.1559_1561delAAC
- NM_001408462.1:c.1559_1561delAAC
- NM_001408463.1:c.1559_1561delAAC
- NM_001408464.1:c.1559_1561delAAC
- NM_001408465.1:c.1559_1561delAAC
- NM_001408466.1:c.1559_1561delAAC
- NM_001408467.1:c.1559_1561delAAC
- NM_001408468.1:c.1556_1558delAAC
- NM_001408469.1:c.1556_1558delAAC
- NM_001408470.1:c.1556_1558delAAC
- NM_001408472.1:c.1700_1702delAAC
- NM_001408473.1:c.1697_1699delAAC
- NM_001408474.1:c.1502_1504delAAC
- NM_001408475.1:c.1499_1501delAAC
- NM_001408476.1:c.1499_1501delAAC
- NM_001408478.1:c.1493_1495delAAC
- NM_001408479.1:c.1493_1495delAAC
- NM_001408480.1:c.1493_1495delAAC
- NM_001408481.1:c.1490_1492delAAC
- NM_001408482.1:c.1490_1492delAAC
- NM_001408483.1:c.1490_1492delAAC
- NM_001408484.1:c.1490_1492delAAC
- NM_001408485.1:c.1490_1492delAAC
- NM_001408489.1:c.1490_1492delAAC
- NM_001408490.1:c.1490_1492delAAC
- NM_001408491.1:c.1490_1492delAAC
- NM_001408492.1:c.1487_1489delAAC
- NM_001408493.1:c.1487_1489delAAC
- NM_001408494.1:c.1463_1465delAAC
- NM_001408495.1:c.1457_1459delAAC
- NM_001408496.1:c.1439_1441delAAC
- NM_001408497.1:c.1439_1441delAAC
- NM_001408498.1:c.1439_1441delAAC
- NM_001408499.1:c.1439_1441delAAC
- NM_001408500.1:c.1439_1441delAAC
- NM_001408501.1:c.1439_1441delAAC
- NM_001408502.1:c.1436_1438delAAC
- NM_001408503.1:c.1436_1438delAAC
- NM_001408504.1:c.1436_1438delAAC
- NM_001408505.1:c.1433_1435delAAC
- NM_001408506.1:c.1376_1378delAAC
- NM_001408507.1:c.1373_1375delAAC
- NM_001408508.1:c.1364_1366delAAC
- NM_001408509.1:c.1361_1363delAAC
- NM_001408510.1:c.1322_1324delAAC
- NM_001408511.1:c.1319_1321delAAC
- NM_001408512.1:c.1199_1201delAAC
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- NP_001395393.1:p.Lys520_His521delinsAsn
- NP_001395394.1:p.Lys520_His521delinsAsn
- NP_001395395.1:p.Lys520_His521delinsAsn
- NP_001395396.1:p.Lys520_His521delinsAsn
- NP_001395397.1:p.Lys519_His520delinsAsn
- NP_001395398.1:p.Lys519_His520delinsAsn
- NP_001395399.1:p.Lys519_His520delinsAsn
- NP_001395401.1:p.Lys567_His568delinsAsn
- NP_001395402.1:p.Lys566_His567delinsAsn
- NP_001395403.1:p.Lys501_His502delinsAsn
- NP_001395404.1:p.Lys500_His501delinsAsn
- NP_001395405.1:p.Lys500_His501delinsAsn
- NP_001395407.1:p.Lys498_His499delinsAsn
- NP_001395408.1:p.Lys498_His499delinsAsn
- NP_001395409.1:p.Lys498_His499delinsAsn
- NP_001395410.1:p.Lys497_His498delinsAsn
- NP_001395411.1:p.Lys497_His498delinsAsn
- NP_001395412.1:p.Lys497_His498delinsAsn
- NP_001395413.1:p.Lys497_His498delinsAsn
- NP_001395414.1:p.Lys497_His498delinsAsn
- NP_001395418.1:p.Lys497_His498delinsAsn
- NP_001395419.1:p.Lys497_His498delinsAsn
- NP_001395420.1:p.Lys497_His498delinsAsn
- NP_001395421.1:p.Lys496_His497delinsAsn
- NP_001395422.1:p.Lys496_His497delinsAsn
- NP_001395423.1:p.Lys488_His489delinsAsn
- NP_001395424.1:p.Lys486_His487delinsAsn
- NP_001395425.1:p.Lys480_His481delinsAsn
- NP_001395426.1:p.Lys480_His481delinsAsn
- NP_001395427.1:p.Lys480_His481delinsAsn
- NP_001395428.1:p.Lys480_His481delinsAsn
- NP_001395429.1:p.Lys480_His481delinsAsn
- NP_001395430.1:p.Lys480_His481delinsAsn
- NP_001395431.1:p.Lys479_His480delinsAsn
- NP_001395432.1:p.Lys479_His480delinsAsn
- NP_001395433.1:p.Lys479_His480delinsAsn
- NP_001395434.1:p.Lys478_His479delinsAsn
- NP_001395435.1:p.Lys459_His460delinsAsn
- NP_001395436.1:p.Lys458_His459delinsAsn
- NP_001395437.1:p.Lys455_His456delinsAsn
- NP_001395438.1:p.Lys454_His455delinsAsn
- NP_001395439.1:p.Lys441_His442delinsAsn
- NP_001395440.1:p.Lys440_His441delinsAsn
- NP_001395441.1:p.Lys400_His401delinsAsn
- NP_001395442.1:p.Lys391_His392delinsAsn
- NP_009225.1:p.Lys1671_His1672delinsAsn
- NP_009225.1:p.Lys1671_His1672delinsAsn
- NP_009228.2:p.Lys1624_His1625delinsAsn
- NP_009229.2:p.Lys567_His568delinsAsn
- NP_009229.2:p.Lys567_His568delinsAsn
- NP_009230.2:p.Lys567_His568delinsAsn
- NP_009231.2:p.Lys1692_His1693delinsAsn
- NP_009235.2:p.Lys567_His568delinsAsn
- LRG_292t1:c.5012_5014del
- LRG_292:g.150315_150317del
- LRG_292p1:p.Lys1671_His1672delinsAsn
- NC_000017.10:g.41219685_41219687del
- NM_007294.3:c.5012_5014delAAC
- NM_007294.3:c.5013_5015delACA
- NM_007298.3:c.1701_1703del
- NR_027676.2:n.5190_5192del
This HGVS expression did not pass validation- Molecular consequence:
- NM_001407571.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407581.1:c.5078_5080delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407582.1:c.5078_5080delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407583.1:c.5075_5077delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407585.1:c.5075_5077delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407587.1:c.5075_5077delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407590.1:c.5072_5074delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407591.1:c.5072_5074delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407593.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407594.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407596.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407597.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407598.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407602.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407603.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407605.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407610.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407611.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407612.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407613.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407614.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407615.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407616.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407617.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407618.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407619.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407620.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407621.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407622.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407623.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407624.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407625.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407626.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407627.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407628.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407629.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407630.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407631.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407632.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407633.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407634.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407635.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407636.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407637.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407638.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407639.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407640.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407641.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407642.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407644.1:c.5003_5005delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407645.1:c.5003_5005delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407646.1:c.5000_5002delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407647.1:c.4997_4999delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407648.1:c.4955_4957delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407649.1:c.4952_4954delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407652.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407653.1:c.4934_4936delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407654.1:c.4934_4936delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407655.1:c.4934_4936delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407656.1:c.4931_4933delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407657.1:c.4931_4933delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407658.1:c.4931_4933delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407659.1:c.4928_4930delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407660.1:c.4928_4930delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407661.1:c.4928_4930delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407662.1:c.4928_4930delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407663.1:c.4928_4930delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407664.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407665.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407666.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407667.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407668.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407669.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407670.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407671.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407672.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407673.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407674.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407675.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407676.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407677.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407678.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407679.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407680.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407681.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407682.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407683.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407684.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407685.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407686.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407687.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407688.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407689.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407690.1:c.4880_4882delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407691.1:c.4880_4882delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407692.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407694.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407695.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407696.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407697.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407698.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407724.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407725.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407726.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407727.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407728.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407729.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407730.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407731.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407732.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407733.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407734.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407735.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407736.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407737.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407738.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407739.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407740.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407741.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407742.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407743.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407744.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407745.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407746.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407747.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407748.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407749.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407750.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407751.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407752.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407838.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407839.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407841.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407842.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407843.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407844.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407845.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407846.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407847.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407848.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407849.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407850.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407851.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407852.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407853.1:c.4865_4867delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407854.1:c.5012_5014delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407858.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407859.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407860.1:c.5009_5011delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407861.1:c.5006_5008delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407862.1:c.4811_4813delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407863.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407874.1:c.4805_4807delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407875.1:c.4805_4807delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407879.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407881.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407882.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407884.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407885.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407886.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407887.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407889.1:c.4802_4804delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407894.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407895.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407896.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407897.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407898.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407899.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407900.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407902.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407904.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407906.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407907.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407908.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407909.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407910.1:c.4799_4801delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407915.1:c.4796_4798delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407916.1:c.4796_4798delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407917.1:c.4796_4798delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407918.1:c.4796_4798delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407919.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407920.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407921.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407922.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407923.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407924.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407925.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407926.1:c.4748_4750delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407927.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407928.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407929.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407930.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407931.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407932.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407933.1:c.4745_4747delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407934.1:c.4742_4744delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407935.1:c.4742_4744delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407936.1:c.4742_4744delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407937.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407938.1:c.4889_4891delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407939.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407940.1:c.4886_4888delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407941.1:c.4883_4885delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407942.1:c.4871_4873delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407943.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407944.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407945.1:c.4868_4870delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407946.1:c.4679_4681delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407947.1:c.4679_4681delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407948.1:c.4679_4681delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407949.1:c.4679_4681delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407950.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407951.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407952.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407953.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407954.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407955.1:c.4676_4678delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407956.1:c.4673_4675delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407957.1:c.4673_4675delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407958.1:c.4673_4675delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407959.1:c.4631_4633delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407960.1:c.4628_4630delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407962.1:c.4628_4630delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407963.1:c.4625_4627delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407964.1:c.4550_4552delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407965.1:c.4505_4507delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407966.1:c.4124_4126delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407967.1:c.4121_4123delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407968.1:c.2408_2410delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407969.1:c.2405_2407delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407970.1:c.1769_1771delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407971.1:c.1769_1771delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407972.1:c.1766_1768delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407973.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407974.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407975.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407976.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407977.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407978.1:c.1703_1705delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407979.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407980.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407981.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407982.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407983.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407984.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407985.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407986.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407990.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407991.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407992.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001407993.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408392.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408396.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408397.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408398.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408399.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408400.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408401.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408402.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408403.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408404.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408406.1:c.1694_1696delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408407.1:c.1694_1696delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408408.1:c.1694_1696delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408409.1:c.1691_1693delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408410.1:c.1628_1630delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408411.1:c.1625_1627delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408412.1:c.1622_1624delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408413.1:c.1622_1624delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408414.1:c.1622_1624delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408415.1:c.1622_1624delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408416.1:c.1622_1624delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408418.1:c.1586_1588delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408419.1:c.1586_1588delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408420.1:c.1586_1588delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408421.1:c.1583_1585delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408422.1:c.1583_1585delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408423.1:c.1583_1585delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408424.1:c.1583_1585delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408425.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408426.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408427.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408428.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408429.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408430.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408431.1:c.1580_1582delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408432.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408433.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408434.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408435.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408436.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408437.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408438.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408439.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408440.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408441.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408442.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408443.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408444.1:c.1577_1579delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408445.1:c.1574_1576delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408446.1:c.1574_1576delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408447.1:c.1574_1576delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408448.1:c.1574_1576delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408450.1:c.1574_1576delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408451.1:c.1568_1570delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408452.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408453.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408454.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408455.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408456.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408457.1:c.1562_1564delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408458.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408459.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408460.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408461.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408462.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408463.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408464.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408465.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408466.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408467.1:c.1559_1561delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408468.1:c.1556_1558delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408469.1:c.1556_1558delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408470.1:c.1556_1558delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408472.1:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408473.1:c.1697_1699delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408474.1:c.1502_1504delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408475.1:c.1499_1501delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408476.1:c.1499_1501delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408478.1:c.1493_1495delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408479.1:c.1493_1495delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408480.1:c.1493_1495delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408481.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408482.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408483.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408484.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408485.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408489.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408490.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408491.1:c.1490_1492delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408492.1:c.1487_1489delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408493.1:c.1487_1489delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408494.1:c.1463_1465delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408495.1:c.1457_1459delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408496.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408497.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408498.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408499.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408500.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408501.1:c.1439_1441delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408502.1:c.1436_1438delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408503.1:c.1436_1438delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408504.1:c.1436_1438delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408505.1:c.1433_1435delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408506.1:c.1376_1378delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408507.1:c.1373_1375delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408508.1:c.1364_1366delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408509.1:c.1361_1363delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408510.1:c.1322_1324delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408511.1:c.1319_1321delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408512.1:c.1199_1201delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_001408513.1:c.1172_1174delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007294.4:c.5013_5015del - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007297.4:c.4872_4874del - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007298.4:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007299.4:c.1701_1703del - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007300.4:c.5076_5078del - inframe_indel - [Sequence Ontology: SO:0001820]
- NM_007304.2:c.1700_1702delAAC - inframe_indel - [Sequence Ontology: SO:0001820]
- NR_027676.2:n.5190_5192del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Fas-associated factor 1 [Mus musculus]
Fas-associated factor 1 [Mus musculus]gi|40675732|gb|AAH65098.1|Protein
-
PMC Links for Protein (Select 50960038) (1)
PMC
-
txid219782[Organism] (1288)
Nucleotide
-
txid232164[Organism] (84)
Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV002645481 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Dec 14, 2018) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV002645481.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.5013_5015delACA variant (also known as p.K1671_H1672delinsN) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame ACA deletion at nucleotide positions 5013 to 5015. This causes the deletion of two residues at codons 1671 and 1672 (KH) and insertion of one residue (N) at codon 1671. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: May 1, 2024