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 stars
criteria provided, single submitter

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:: 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
NM_001408513.1:c.1172_1174delAAC
NM_007294.4:c.5013_5015delMANE SELECT
NM_007297.4:c.4872_4874del
NM_007298.4:c.1700_1702delAAC
NM_007299.4:c.1701_1703del
NM_007300.4:c.5076_5078del
NM_007304.2:c.1700_1702delAAC
NP_001394500.1:p.Lys1600_His1601delinsAsn
NP_001394510.1:p.Lys1693_His1694delinsAsn
NP_001394511.1:p.Lys1693_His1694delinsAsn
NP_001394512.1:p.Lys1692_His1693delinsAsn
NP_001394514.1:p.Lys1692_His1693delinsAsn
NP_001394516.1:p.Lys1692_His1693delinsAsn
NP_001394519.1:p.Lys1691_His1692delinsAsn
NP_001394520.1:p.Lys1691_His1692delinsAsn
NP_001394522.1:p.Lys1671_His1672delinsAsn
NP_001394523.1:p.Lys1671_His1672delinsAsn
NP_001394525.1:p.Lys1671_His1672delinsAsn
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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

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

Recent activity

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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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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	Citation Link

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

Citation Link

Help

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

ClinVar

Relating variation to medicine