Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940527del , CM000678.2:g.67940527del | GRCh38 |
| NC_000016.9:g.67974430del , CM000678.1:g.67974430del | GRCh37 |
| NC_000016.8:g.66531931del | NCBI36 |
| NG_009778.1:g.8586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-49del MANE Select | ENSP00000264005.5:n.749-49del | |
| ENST00000264005.9:c.749-49del | ENSP00000264005.5:n.749-49del | |
| ENST00000570369.5:c.156-453del | ||
| ENST00000570980.1:c.533-49del | ENSP00000464651.1:n.533-49del | |
| ENST00000573538.5:c.487-49del | ENSP00000463220.1:n.487-49del | |
| NM_000229.1:c.749-49del | NP_000220.1:n.749-49del | |
| NM_000229.2:c.749-49del MANE Select | NP_000220.1:n.749-49del |