Linked Data
gnomAD v3:
6-31355123-A-ATGTATCACAGCAGCGACCACAGCTC
gnomAD v4:
6-31355123-A-ATGTATCACAGCAGCGACCACAGCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355123_31355124insTGTATCACAGCAGCGACCACAGCTC , CM000668.2:g.31355123_31355124insTGTATCACAGCAGCGACCACAGCTC | GRCh38 |
| NC_000006.11:g.31322900_31322901insTGTATCACAGCAGCGACCACAGCTC , CM000668.1:g.31322900_31322901insTGTATCACAGCAGCGACCACAGCTC | GRCh37 |
| NC_000006.10:g.31430879_31430880insTGTATCACAGCAGCGACCACAGCTC | NCBI36 |
| NG_023187.1:g.7089_7090insGAGCTGTGGTCGCTGCTGTGATACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3042_3043insGAGCTGTGGTCGCTGCTGTGATACA | ||
| ENST00000481849.6:n.2561_2562insGAGCTGTGGTCGCTGCTGTGATACA | ||
| ENST00000497377.6:n.2468_2469insGAGCTGTGGTCGCTGCTGTGATACA | ||
| ENST00000640094.2:c.895+193_895+194insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000491275.2:n.895+193_895+194insGAGCTGTGGTCGCTGCTGTGATA... | |
| ENST00000696558.1:c.1064_1065insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000512716.1:n.1064_1065insGAGCTGTGGTCGCTGCTGTGATACA | |
| ENST00000696559.1:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000512717.1:p.Cys332TrpfsTer10 | |
| ENST00000696560.1:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000512718.1:p.Cys332TrpfsTer10 | |
| ENST00000696561.1:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000512719.1:p.Cys332TrpfsTer10 | |
| ENST00000696562.1:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000512720.1:p.Cys332TrpfsTer10 | |
| ENST00000412585.7:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA MANE Select | ENSP00000399168.2:p.Cys332TrpfsTer10 | |
| ENST00000640094.1:c.88+193_88+194insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000491275.1:n.88+193_88+194insGAGCTGTGGTCGCTGCTGTGATACA... | |
| ENST00000412585.6:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | ENSP00000399168.2:p.Cys332TrpfsTer10 | |
| ENST00000463574.1:n.586_587insGAGCTGTGGTCGCTGCTGTGATACA | ||
| NM_005514.6:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | NP_005505.2:p.Cys332TrpfsTer10 | |
| XM_011514556.1:c.1028_1029insGAGCTGTGGTCGCTGCTGTGATACA | XP_011512858.1:p.Cys343TrpfsTer10 | |
| XM_011514557.1:c.895+193_895+194insGAGCTGTGGTCGCTGCTGTGATACA | XP_011512859.1:n.895+193_895+194insGAGCTGTGGTCGCTGCTGTGATACA | |
| XR_926175.1:n.1434_1435insGAGCTGTGGTCGCTGCTGTGATACA | ||
| NM_005514.7:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA | NP_005505.2:p.Cys332TrpfsTer10 | |
| NM_005514.8:c.995_996insGAGCTGTGGTCGCTGCTGTGATACA MANE Select | NP_005505.2:p.Cys332TrpfsTer10 |