ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086788_2086790delinsAAT , CM000678.2:g.2086788_2086790delinsAAT | GRCh38 |
| NC_000016.9:g.2136789_2136791delinsAAT , CM000678.1:g.2136789_2136791delinsAAT | GRCh37 |
| NC_000016.8:g.2076790_2076792delinsAAT | NCBI36 |
| NG_005895.1:g.42483_42485delinsAAT , LRG_487:g.42483_42485delinsAAT | |
| NG_008617.1:g.56431_56433delinsATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3255_*3257delinsAAT | ENSP00000455997.2:n.*3255_*3257delinsAAT | |
| ENST00000642206.2:c.4753_4755delinsAAT | ENSP00000495146.2:p.Asp1585Asn | |
| ENST00000642365.2:c.4903_4905delinsAAT | ENSP00000495459.2:p.Asp1635Asn | |
| ENST00000644417.2:c.*5419_*5421delinsAAT | ENSP00000493912.2:n.*5419_*5421delinsAAT | |
| ENST00000646464.2:c.*7655_*7657delinsAAT | ENSP00000496610.2:n.*7655_*7657delinsAAT | |
| ENST00000219476.9:c.4906_4908delinsAAT MANE Select | ENSP00000219476.3:p.Asp1636Asn | |
| ENST00000350773.9:c.4837_4839delinsAAT | ENSP00000344383.4:p.Asp1613Asn | |
| ENST00000401874.7:c.4705_4707delinsAAT | ENSP00000384468.2:p.Asp1569Asn | |
| ENST00000568454.6:c.4738_4740delinsAAT | ENSP00000454487.1:p.Asp1580Asn | |
| ENST00000569110.2:c.1129_1131delinsAAT | ||
| ENST00000569930.2:n.2788_2790delinsAAT | ||
| ENST00000642365.1:c.3560_3562delinsAAT | ||
| ENST00000642561.1:c.4777_4779delinsAAT | ENSP00000495099.1:p.Asp1593Asn | |
| ENST00000642728.1:n.1088_1090delinsAAT | ||
| ENST00000642791.1:n.503_505delinsAAT | ||
| ENST00000642797.1:c.4708_4710delinsAAT | ENSP00000493846.1:p.Asp1570Asn | |
| ENST00000642936.1:c.4774_4776delinsAAT | ENSP00000494514.1:p.Asp1592Asn | |
| ENST00000643088.1:c.4699_4701delinsAAT | ENSP00000494747.1:p.Asp1567Asn | |
| ENST00000643177.1:n.920_922delinsAAT | ||
| ENST00000643426.1:n.2554_2556delinsAAT | ||
| ENST00000643946.1:c.4831_4833delinsAAT | ENSP00000495927.1:p.Asp1611Asn | |
| ENST00000644043.1:c.4777_4779delinsAAT | ENSP00000496262.1:p.Asp1593Asn | |
| ENST00000644278.1:n.388_390delinsAAT | ||
| ENST00000644329.1:c.4705_4707delinsAAT | ENSP00000496611.1:p.Asp1569Asn | |
| ENST00000644335.1:c.4702_4704delinsAAT | ENSP00000496317.1:p.Asp1568Asn | |
| ENST00000644399.1:c.4827_4829delinsAAT | ||
| ENST00000645024.1:n.2990_2992delinsAAT | ||
| ENST00000646388.1:c.4900_4902delinsAAT | ENSP00000495921.1:p.Asp1634Asn | |
| ENST00000646557.1:n.67_69delinsAAT | ||
| ENST00000646634.1:n.3721_3723delinsAAT | ||
| ENST00000646674.1:n.2158_2160delinsAAT | ||
| ENST00000647042.1:n.2129_2131delinsAAT | ||
| ENST00000647180.1:n.2019_2021delinsAAT | ||
| ENST00000219476.7:c.4906_4908delinsAAT | ENSP00000219476.3:p.Asp1636Asn | |
| ENST00000350773.8:c.4837_4839delinsAAT | ENSP00000344383.4:p.Asp1613Asn | |
| ENST00000382538.10:c.4561_4563delinsAAT | ENSP00000371978.6:p.Asp1521Asn | |
| ENST00000401874.6:c.4705_4707delinsAAT | ENSP00000384468.2:p.Asp1569Asn | |
| ENST00000439117.6:c.*4073_*4075delinsAAT | ENSP00000406980.2:n.*4073_*4075delinsAAT | |
| ENST00000439673.6:c.4597_4599delinsAAT | ENSP00000399232.2:p.Asp1533Asn | |
| ENST00000497886.5:n.2629_2631delinsAAT | ||
| ENST00000568454.5:c.4738_4740delinsAAT | ENSP00000454487.1:p.Asp1580Asn | |
| ENST00000569110.1:c.1088_1090delinsAAT | ||
| ENST00000569930.1:n.2021_2023delinsAAT | ||
| NM_000548.3:c.4906_4908delinsAAT , LRG_487t1:c.4906_4908delinsAAT | NP_000539.2:p.Asp1636Asn | |
| NM_001077183.1:c.4705_4707delinsAAT | NP_001070651.1:p.Asp1569Asn | |
| NM_001114382.1:c.4837_4839delinsAAT | NP_001107854.1:p.Asp1613Asn | |
| XM_005255529.3:c.4777_4779delinsAAT | XP_005255586.2:p.Asp1593Asn | |
| XM_005255531.3:c.4708_4710delinsAAT | XP_005255588.2:p.Asp1570Asn | |
| XM_011522636.1:c.4960_4962delinsAAT | XP_011520938.1:p.Asp1654Asn | |
| XM_011522637.1:c.4957_4959delinsAAT | XP_011520939.1:p.Asp1653Asn | |
| XM_011522638.1:c.4849_4851delinsAAT | XP_011520940.1:p.Asp1617Asn | |
| XM_011522639.1:c.4831_4833delinsAAT | XP_011520941.1:p.Asp1611Asn | |
| XM_011522640.1:c.4828_4830delinsAAT | XP_011520942.1:p.Asp1610Asn | |
| XM_011522641.1:c.4597_4599delinsAAT | XP_011520943.1:p.Asp1533Asn | |
| NM_000548.4:c.4906_4908delinsAAT | NP_000539.2:p.Asp1636Asn | |
| NM_001077183.2:c.4705_4707delinsAAT | NP_001070651.1:p.Asp1569Asn | |
| NM_001114382.2:c.4837_4839delinsAAT | NP_001107854.1:p.Asp1613Asn | |
| NM_001318827.1:c.4597_4599delinsAAT | NP_001305756.1:p.Asp1533Asn | |
| NM_001318829.1:c.4561_4563delinsAAT | NP_001305758.1:p.Asp1521Asn | |
| NM_001318831.1:c.4174_4176delinsAAT | NP_001305760.1:p.Asp1392Asn | |
| NM_001318832.1:c.4738_4740delinsAAT | NP_001305761.1:p.Asp1580Asn | |
| NM_001363528.1:c.4708_4710delinsAAT | NP_001350457.1:p.Asp1570Asn | |
| NM_021055.2:c.4777_4779delinsAAT | NP_066399.2:p.Asp1593Asn | |
| XM_005255531.4:c.4708_4710delinsAAT | XP_005255588.2:p.Asp1570Asn | |
| XM_011522636.2:c.4960_4962delinsAAT | XP_011520938.1:p.Asp1654Asn | |
| XM_011522637.2:c.4957_4959delinsAAT | XP_011520939.1:p.Asp1653Asn | |
| XM_011522638.2:c.5122_5124delinsAAT | XP_011520940.2:p.Asp1708Asn | |
| XM_011522639.2:c.4831_4833delinsAAT | XP_011520941.1:p.Asp1611Asn | |
| XM_011522640.2:c.4828_4830delinsAAT | XP_011520942.1:p.Asp1610Asn | |
| XM_017023615.1:c.4903_4905delinsAAT | XP_016879104.1:p.Asp1635Asn | |
| XM_017023616.1:c.4774_4776delinsAAT | XP_016879105.1:p.Asp1592Asn | |
| XM_017023617.1:c.4870_4872delinsAAT | XP_016879106.1:p.Asp1624Asn | |
| XM_017023618.1:c.3616_3618delinsAAT | XP_016879107.1:p.Asp1206Asn | |
| XM_024450413.1:c.4705_4707delinsAAT | XP_024306181.1:p.Asp1569Asn | |
| NM_000548.5:c.4906_4908delinsAAT MANE Select | NP_000539.2:p.Asp1636Asn | |
| NM_001370404.1:c.4774_4776delinsAAT | NP_001357333.1:p.Asp1592Asn | |
| NM_001370405.1:c.4777_4779delinsAAT | NP_001357334.1:p.Asp1593Asn | |
| NM_001077183.3:c.4705_4707delinsAAT | NP_001070651.1:p.Asp1569Asn | |
| NM_001114382.3:c.4837_4839delinsAAT | NP_001107854.1:p.Asp1613Asn | |
| NM_001318827.2:c.4597_4599delinsAAT | NP_001305756.1:p.Asp1533Asn | |
| NM_001318829.2:c.4561_4563delinsAAT | NP_001305758.1:p.Asp1521Asn | |
| NM_001318831.2:c.4174_4176delinsAAT | NP_001305760.1:p.Asp1392Asn | |
| NM_001318832.2:c.4738_4740delinsAAT | NP_001305761.1:p.Asp1580Asn | |
| NM_001363528.2:c.4708_4710delinsAAT | NP_001350457.1:p.Asp1570Asn | |
| NM_021055.3:c.4777_4779delinsAAT | NP_066399.2:p.Asp1593Asn |