Linked Data
gnomAD v4:
6-31269493-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269494del , CM000668.2:g.31269494del | GRCh38 |
| NC_000006.11:g.31237271del , CM000668.1:g.31237271del | GRCh37 |
| NC_000006.10:g.31345250del | NCBI36 |
| NG_029422.2:g.7638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1047del MANE Select | ENSP00000365402.5:p.Cys350AlafsTer? | |
| ENST00000376228.9:c.1047del | ENSP00000365402.5:p.Cys350AlafsTer? | |
| ENST00000376237.8:c.*634del | ENSP00000365412.4:n.*634del | |
| ENST00000383329.7:c.1065del | ENSP00000372819.3:p.Cys356AlafsTer? | |
| ENST00000466892.5:n.173del | ||
| ENST00000470363.5:n.805del | ||
| ENST00000487245.5:n.1406del | ||
| NM_002117.5:c.1047del | NP_002108.4:p.Cys350AlafsTer? | |
| NM_002117.6:c.1047del MANE Select | NP_002108.4:p.Cys350AlafsTer? |