Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586806del , CM000679.2:g.41586806del | GRCh38 |
| NC_000017.10:g.39743058del , CM000679.1:g.39743058del | GRCh37 |
| NC_000017.9:g.36996584del | NCBI36 |
| NG_008624.1:g.5091del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.30del MANE Select | ENSP00000167586.6:p.Ser11ProfsTer4 | |
| ENST00000167586.6:c.30del | ENSP00000167586.6:p.Ser11ProfsTer4 | |
| NM_000526.4:c.30del | NP_000517.2:p.Ser11ProfsTer4 | |
| NM_000526.5:c.30del MANE Select | NP_000517.3:p.Ser11ProfsTer4 |