Linked Data
gnomAD v4:
10-122461680-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461682_122461683del , CM000672.2:g.122461682_122461683del | GRCh38 |
| NC_000010.10:g.124221198_124221199del , CM000672.1:g.124221198_124221199del | GRCh37 |
| NC_000010.9:g.124211188_124211189del | NCBI36 |
| NG_011554.1:g.5158_5159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.30_31del MANE Select | ENSP00000357980.3:p.Leu11AlafsTer? | |
| ENST00000648167.1:c.154+2973_154+2974del | ENSP00000498033.1:n.154+2973_154+2974del | |
| ENST00000368984.7:c.30_31del | ENSP00000357980.3:p.Leu11AlafsTer? | |
| NM_002775.4:c.30_31del | NP_002766.1:p.Leu11AlafsTer? | |
| NM_002775.5:c.30_31del MANE Select | NP_002766.1:p.Leu11AlafsTer? |