Linked Data
gnomAD v4:
10-122461629-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461630_122461631del , CM000672.2:g.122461630_122461631del | GRCh38 |
| NC_000010.10:g.124221146_124221147del , CM000672.1:g.124221146_124221147del | GRCh37 |
| NC_000010.9:g.124211136_124211137del | NCBI36 |
| NG_011554.1:g.5106_5107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-23_-22del MANE Select | ENSP00000357980.3:n.-23_-22del | |
| ENST00000648167.1:c.154+2921_154+2922del | ENSP00000498033.1:n.154+2921_154+2922del | |
| ENST00000368984.7:c.-23_-22del | ENSP00000357980.3:n.-23_-22del | |
| NM_002775.4:c.-23_-22del | NP_002766.1:n.-23_-22del | |
| NM_002775.5:c.-23_-22del MANE Select | NP_002766.1:n.-23_-22del |