Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584049_41584059del , CM000679.2:g.41584049_41584059del | GRCh38 |
| NC_000017.10:g.39740301_39740311del , CM000679.1:g.39740301_39740311del | GRCh37 |
| NC_000017.9:g.36993827_36993837del | NCBI36 |
| NG_008624.1:g.7837_7847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-138_766-128del MANE Select | ENSP00000167586.6:n.766-138_766-128del | |
| ENST00000167586.6:c.766-138_766-128del | ENSP00000167586.6:n.766-138_766-128del | |
| ENST00000476662.1:n.216-138_216-128del | ||
| NM_000526.4:c.766-138_766-128del | NP_000517.2:n.766-138_766-128del | |
| NM_000526.5:c.766-138_766-128del MANE Select | NP_000517.3:n.766-138_766-128del |