ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828864_112828865delinsAT , CM000667.2:g.112828864_112828865delinsAT | GRCh38 |
| NC_000005.9:g.112164561_112164562delinsAT , CM000667.1:g.112164561_112164562delinsAT | GRCh37 |
| NC_000005.8:g.112192460_112192461delinsAT | NCBI36 |
| NG_008481.4:g.141344_141345delinsAT , LRG_130:g.141344_141345delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-6087_1409-6086delinsAT | ENSP00000484935.2:n.1409-6087_1409-6086delinsAT | |
| ENST00000504915.3:c.1689_1690delinsAT | ENSP00000473355.2:p.Ser564Cys | |
| ENST00000505084.2:n.1691_1692delinsAT | ||
| ENST00000505350.2:c.*1641_*1642delinsAT | ENSP00000481752.1:n.*1641_*1642delinsAT | |
| ENST00000507379.6:c.1581_1582delinsAT | ENSP00000423224.2:p.Ser528Cys | |
| ENST00000509732.6:c.1635_1636delinsAT | ENSP00000426541.2:p.Ser546Cys | |
| ENST00000512211.7:c.1635_1636delinsAT | ENSP00000423828.3:p.Ser546Cys | |
| ENST00000257430.9:c.1635_1636delinsAT MANE Select | ENSP00000257430.4:p.Ser546Cys | |
| ENST00000257430.8:c.1635_1636delinsAT | ENSP00000257430.4:p.Ser546Cys | |
| ENST00000502371.2:c.97-6087_97-6086delinsAT | ||
| ENST00000504915.2:c.324_325delinsAT | ENSP00000473355.1:p.Ser109Cys | |
| ENST00000505084.1:n.122_123delinsAT | ||
| ENST00000507379.5:c.1581_1582delinsAT | ENSP00000423224.1:p.Ser528Cys | |
| ENST00000508376.6:c.1635_1636delinsAT | ENSP00000427089.2:p.Ser546Cys | |
| ENST00000508624.5:c.*957_*958delinsAT | ENSP00000424265.1:n.*957_*958delinsAT | |
| ENST00000512211.6:c.1635_1636delinsAT | ENSP00000423828.2:p.Ser546Cys | |
| ENST00000520401.1:c.122_123delinsAT | ||
| NM_000038.5:c.1635_1636delinsAT | NP_000029.2:p.Ser546Cys | |
| NM_001127510.2:c.1635_1636delinsAT | NP_001120982.1:p.Ser546Cys | |
| NM_001127511.2:c.1581_1582delinsAT | NP_001120983.2:p.Ser528Cys | |
| NM_001354895.1:c.1635_1636delinsAT | NP_001341824.1:p.Ser546Cys | |
| NM_001354896.1:c.1689_1690delinsAT | NP_001341825.1:p.Ser564Cys | |
| NM_001354897.1:c.1665_1666delinsAT | NP_001341826.1:p.Ser556Cys | |
| NM_001354898.1:c.1560_1561delinsAT | NP_001341827.1:p.Ser521Cys | |
| NM_001354899.1:c.1551_1552delinsAT | NP_001341828.1:p.Ser518Cys | |
| NM_001354900.1:c.1512_1513delinsAT | NP_001341829.1:p.Ser505Cys | |
| NM_001354901.1:c.1458_1459delinsAT | NP_001341830.1:p.Ser487Cys | |
| NM_001354902.1:c.1362_1363delinsAT | NP_001341831.1:p.Ser455Cys | |
| NM_001354903.1:c.1332_1333delinsAT | NP_001341832.1:p.Ser445Cys | |
| NM_001354904.1:c.1257_1258delinsAT | NP_001341833.1:p.Ser420Cys | |
| NM_001354905.1:c.1155_1156delinsAT | NP_001341834.1:p.Ser386Cys | |
| NM_001354906.1:c.786_787delinsAT | NP_001341835.1:p.Ser263Cys | |
| NM_000038.6:c.1635_1636delinsAT MANE Select | NP_000029.2:p.Ser546Cys | |
| NM_001127510.3:c.1635_1636delinsAT | NP_001120982.1:p.Ser546Cys | |
| NM_001127511.3:c.1581_1582delinsAT | NP_001120983.2:p.Ser528Cys | |
| NM_001354895.2:c.1635_1636delinsAT | NP_001341824.1:p.Ser546Cys | |
| NM_001354896.2:c.1689_1690delinsAT | NP_001341825.1:p.Ser564Cys | |
| NM_001354897.2:c.1665_1666delinsAT | NP_001341826.1:p.Ser556Cys | |
| NM_001354898.2:c.1560_1561delinsAT | NP_001341827.1:p.Ser521Cys | |
| NM_001354899.2:c.1551_1552delinsAT | NP_001341828.1:p.Ser518Cys | |
| NM_001354900.2:c.1512_1513delinsAT | NP_001341829.1:p.Ser505Cys | |
| NM_001354901.2:c.1458_1459delinsAT | NP_001341830.1:p.Ser487Cys | |
| NM_001354902.2:c.1362_1363delinsAT | NP_001341831.1:p.Ser455Cys | |
| NM_001354903.2:c.1332_1333delinsAT | NP_001341832.1:p.Ser445Cys | |
| NM_001354904.2:c.1257_1258delinsAT | NP_001341833.1:p.Ser420Cys | |
| NM_001354905.2:c.1155_1156delinsAT | NP_001341834.1:p.Ser386Cys | |
| NM_001354906.2:c.786_787delinsAT | NP_001341835.1:p.Ser263Cys |