Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586646_41586647delinsAT , CM000679.2:g.41586646_41586647delinsAT | GRCh38 |
| NC_000017.10:g.39742898_39742899delinsAT , CM000679.1:g.39742898_39742899delinsAT | GRCh37 |
| NC_000017.9:g.36996424_36996425delinsAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000526.5:c.188_189delinsAT MANE Select | NP_000517.3:p.Cys63Tyr |
| ENST00000167586.7:c.188_189delinsAT MANE Select | ENSP00000167586.6:p.Cys63Tyr |
| ENST00000167586.6:c.188_189delinsAT | ENSP00000167586.6:p.Cys63Tyr |