Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124169_72124187del , CM000679.2:g.72124169_72124187del | GRCh38 |
| NC_000017.10:g.70120310_70120328del , CM000679.1:g.70120310_70120328del | GRCh37 |
| NC_000017.9:g.67631905_67631923del | NCBI36 |
| NG_012490.1:g.8150_8168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1312_1330del MANE Select | ENSP00000245479.2:p.Ser438ThrfsTer26 | |
| ENST00000245479.2:c.1312_1330del | ENSP00000245479.2:p.Ser438ThrfsTer26 | |
| NM_000346.3:c.1312_1330del | NP_000337.1:p.Ser438ThrfsTer26 | |
| NM_000346.4:c.1312_1330del MANE Select | NP_000337.1:p.Ser438ThrfsTer26 |