Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.318218del , CM000674.2:g.318218del | GRCh38 |
| NC_000012.11:g.427384del , CM000674.1:g.427384del | GRCh37 |
| NC_000012.10:g.297645del | NCBI36 |
| NG_046993.1:g.76241del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042603.3:c.2788del MANE Select | NP_001036068.1:p.Val930Ter |
| ENST00000399788.7:c.2788del MANE Select | ENSP00000382688.2:p.Val930Ter |
| NM_001042603.2:c.2788del | NP_001036068.1:p.Val930Ter |
| ENST00000382815.8:c.2788del | ENSP00000372265.5:p.Val930Ter |
| ENST00000399788.6:c.2788del | ENSP00000382688.2:p.Val930Ter |
| ENST00000544760.1:c.1645del | ENSP00000440622.1:p.Val549Ter |