Linked Data
gnomAD v4:
6-31270051-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270054del , CM000668.2:g.31270054del | GRCh38 |
| NC_000006.11:g.31237831del , CM000668.1:g.31237831del | GRCh37 |
| NC_000006.10:g.31345810del | NCBI36 |
| NG_029422.2:g.7080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.929del MANE Select | ENSP00000365402.5:p.Gly310AlafsTer12 | |
| ENST00000376228.9:c.929del | ENSP00000365402.5:p.Gly310AlafsTer12 | |
| ENST00000376237.8:c.*516del | ENSP00000365412.4:n.*516del | |
| ENST00000383329.7:c.929del | ENSP00000372819.3:p.Gly310AlafsTer12 | |
| ENST00000470363.5:n.247del | ||
| ENST00000487245.5:n.1288del | ||
| NM_002117.5:c.929del | NP_002108.4:p.Gly310AlafsTer12 | |
| NM_002117.6:c.929del MANE Select | NP_002108.4:p.Gly310AlafsTer12 |