Linked Data
gnomAD v4:
1-192811714-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811716_192811717del , CM000663.2:g.192811716_192811717del | GRCh38 |
| NC_000001.10:g.192780846_192780847del , CM000663.1:g.192780846_192780847del | GRCh37 |
| NC_000001.9:g.191047469_191047470del | NCBI36 |
| NG_012800.1:g.7678_7679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*120_*121del MANE Select | ENSP00000235382.5:n.*120_*121del | |
| ENST00000235382.6:c.*120_*121del | ENSP00000235382.5:n.*120_*121del | |
| NM_002923.3:c.*120_*121del | NP_002914.1:n.*120_*121del | |
| NM_002923.4:c.*120_*121del MANE Select | NP_002914.1:n.*120_*121del |