Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584047_41584079del , CM000679.2:g.41584047_41584079del | GRCh38 |
| NC_000017.10:g.39740299_39740331del , CM000679.1:g.39740299_39740331del | GRCh37 |
| NC_000017.9:g.36993825_36993857del | NCBI36 |
| NG_008624.1:g.7818_7850del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-157_766-125del MANE Select | ENSP00000167586.6:n.766-157_766-125del | |
| ENST00000167586.6:c.766-157_766-125del | ENSP00000167586.6:n.766-157_766-125del | |
| ENST00000476662.1:n.216-157_216-125del | ||
| NM_000526.4:c.766-157_766-125del | NP_000517.2:n.766-157_766-125del | |
| NM_000526.5:c.766-157_766-125del MANE Select | NP_000517.3:n.766-157_766-125del |