Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583059_41583060del , CM000679.2:g.41583059_41583060del | GRCh38 |
| NC_000017.10:g.39739311_39739312del , CM000679.1:g.39739311_39739312del | GRCh37 |
| NC_000017.9:g.36992837_36992838del | NCBI36 |
| NG_008624.1:g.8836_8837del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1321+34_1321+35del MANE Select | ENSP00000167586.6:n.1321+34_1321+35del | |
| ENST00000167586.6:c.1321+34_1321+35del | ENSP00000167586.6:n.1321+34_1321+35del | |
| ENST00000441550.2:n.302_303del | ||
| NM_000526.4:c.1321+34_1321+35del | NP_000517.2:n.1321+34_1321+35del | |
| NM_000526.5:c.1321+34_1321+35del MANE Select | NP_000517.3:n.1321+34_1321+35del |