Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583649del , CM000679.2:g.41583649del | GRCh38 |
| NC_000017.10:g.39739901del , CM000679.1:g.39739901del | GRCh37 |
| NC_000017.9:g.36993427del | NCBI36 |
| NG_008624.1:g.8247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.955del MANE Select | ENSP00000167586.6:p.Thr319ProfsTer? | |
| ENST00000167586.6:c.955del | ENSP00000167586.6:p.Thr319ProfsTer? | |
| ENST00000476662.1:n.405del | ||
| NM_000526.4:c.955del | NP_000517.2:p.Thr319ProfsTer? | |
| NM_000526.5:c.955del MANE Select | NP_000517.3:p.Thr319ProfsTer? |