Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183128485del , CM000663.2:g.183128485del | GRCh38 |
| NC_000001.10:g.183097620del , CM000663.1:g.183097620del | GRCh37 |
| NC_000001.9:g.181364243del | NCBI36 |
| NG_011463.1:g.110026del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.3124-109del MANE Select | ENSP00000258341.3:n.3124-109del | |
| ENST00000258341.4:c.3124-109del | ENSP00000258341.3:n.3124-109del | |
| ENST00000466964.1:n.686-109del | ||
| NM_002293.3:c.3124-109del | NP_002284.3:n.3124-109del | |
| NM_002293.4:c.3124-109del MANE Select | NP_002284.3:n.3124-109del |