Linked Data
gnomAD v4:
10-122461979-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461986_122461987del , CM000672.2:g.122461986_122461987del | GRCh38 |
| NC_000010.10:g.124221502_124221503del , CM000672.1:g.124221502_124221503del | GRCh37 |
| NC_000010.9:g.124211492_124211493del | NCBI36 |
| NG_011554.1:g.5462_5463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.334_335del MANE Select | ENSP00000357980.3:p.Cys112ArgfsTer? | |
| ENST00000648167.1:c.154+3277_154+3278del | ENSP00000498033.1:n.154+3277_154+3278del | |
| ENST00000368984.7:c.334_335del | ENSP00000357980.3:p.Cys112ArgfsTer? | |
| NM_002775.4:c.334_335del | NP_002766.1:p.Cys112ArgfsTer? | |
| NM_002775.5:c.334_335del MANE Select | NP_002766.1:p.Cys112ArgfsTer? |