Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780506del , CM000679.2:g.6780506del | GRCh38 |
| NC_000017.10:g.6683825del , CM000679.1:g.6683825del | GRCh37 |
| NC_000017.9:g.6624549del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.638del MANE Select | ENSP00000321386.4:p.Ser213ThrfsTer17 | |
| ENST00000321535.4:c.638del | ENSP00000321386.4:p.Ser213ThrfsTer17 | |
| NM_153230.2:c.638del | NP_694962.1:p.Ser213ThrfsTer17 | |
| XM_011523697.1:c.638del | XP_011521999.1:p.Ser213ThrfsTer17 | |
| XR_243544.3:n.816del | ||
| NM_153230.3:c.638del MANE Select | NP_694962.1:p.Ser213ThrfsTer17 |