Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.84839807del , CM000677.2:g.84839807del | GRCh38 |
| NC_000015.9:g.85383038del , CM000677.1:g.85383038del | GRCh37 |
| NC_000015.8:g.83184042del | NCBI36 |
| NG_054748.1:g.28177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258888.6:c.528del MANE Select | ENSP00000258888.6:p.Ile177SerfsTer9 | |
| ENST00000258888.5:c.1134del | ENSP00000258888.5:p.Ile379SerfsTer9 | |
| NM_020778.4:c.1134del | NP_065829.3:p.Ile379SerfsTer9 | |
| NM_020778.5:c.528del MANE Select | NP_065829.4:p.Ile177SerfsTer9 |