Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583680del , CM000679.2:g.41583680del | GRCh38 |
| NC_000017.10:g.39739932del , CM000679.1:g.39739932del | GRCh37 |
| NC_000017.9:g.36993458del | NCBI36 |
| NG_008624.1:g.8216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.928-4del MANE Select | ENSP00000167586.6:n.928-4del | |
| ENST00000167586.6:c.928-4del | ENSP00000167586.6:n.928-4del | |
| ENST00000476662.1:n.378-4del | ||
| NM_000526.4:c.928-4del | NP_000517.2:n.928-4del | |
| NM_000526.5:c.928-4del MANE Select | NP_000517.3:n.928-4del |