Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532033_129532096del , CM000665.2:g.129532033_129532096del | GRCh38 |
| NC_000003.11:g.129250876_129250939del , CM000665.1:g.129250876_129250939del | GRCh37 |
| NC_000003.10:g.130733566_130733629del | NCBI36 |
| NG_009115.1:g.8395_8458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.531-218_531-155del MANE Select | ENSP00000296271.3:n.531-218_531-155del | |
| ENST00000296271.3:c.531-218_531-155del | ENSP00000296271.3:n.531-218_531-155del | |
| NM_000539.3:c.531-218_531-155del MANE Select | NP_000530.1:n.531-218_531-155del |