Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84840483del , CM000677.2:g.84840483del | GRCh38 |
| NC_000015.9:g.85383714del , CM000677.1:g.85383714del | GRCh37 |
| NC_000015.8:g.83184718del | NCBI36 |
| NG_054748.1:g.28853del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.1204del MANE Select | ENSP00000258888.6:p.Ala402ProfsTer14 | |
| ENST00000258888.5:c.1810del | ENSP00000258888.5:p.Ala604ProfsTer14 | |
| NM_020778.4:c.1810del | NP_065829.3:p.Ala604ProfsTer14 | |
| NM_020778.5:c.1204del MANE Select | NP_065829.4:p.Ala402ProfsTer14 |