Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94014613_94014614del , CM000663.2:g.94014613_94014614del | GRCh38 |
| NC_000001.10:g.94480169_94480170del , CM000663.1:g.94480169_94480170del | GRCh37 |
| NC_000001.9:g.94252757_94252758del | NCBI36 |
| NG_009073.1:g.111538_111539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5391_5392del MANE Select | ENSP00000359245.3:p.Ala1798Ter | |
| ENST00000370225.3:c.5391_5392del | ENSP00000359245.3:p.Ala1798Ter | |
| ENST00000536513.5:c.1767_1768del | ENSP00000439707.2:p.Ala590Ter | |
| NM_000350.2:c.5391_5392del | NP_000341.2:p.Ala1798Ter | |
| NM_000350.3:c.5391_5392del MANE Select | NP_000341.2:p.Ala1798Ter |