Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63066107del , CM000670.2:g.63066107del | GRCh38 |
| NC_000008.10:g.63978666del , CM000670.1:g.63978666del | GRCh37 |
| NC_000008.9:g.64141220del | NCBI36 |
| NG_016123.1:g.24954del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000370.3:c.359-3del MANE Select | NP_000361.1:n.359-3del |
| ENST00000260116.5:c.359-3del MANE Select | ENSP00000260116.4:n.359-3del |
| ENST00000260116.4:c.359-3del | ENSP00000260116.4:n.359-3del |
| ENST00000521138.1:n.233-17497del | |
| XM_006716468.2:c.205-1784del | XP_006716531.1:n.205-1784del |
| XM_006716468.4:c.205-1784del | XP_006716531.1:n.205-1784del |