Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056680_94056694del , CM000663.2:g.94056680_94056694del | GRCh38 |
| NC_000001.10:g.94522236_94522250del , CM000663.1:g.94522236_94522250del | GRCh37 |
| NC_000001.9:g.94294824_94294838del | NCBI36 |
| NG_009073.1:g.69458_69472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2291_2305del MANE Select | ENSP00000359245.3:p.Cys764_Ile768del | |
| ENST00000649773.1:c.2161-1377_2161-1363del | ENSP00000496882.1:n.2161-1377_2161-1363del | |
| ENST00000370225.3:c.2291_2305del | ENSP00000359245.3:p.Cys764_Ile768del | |
| ENST00000536513.5:c.-65+6482_-65+6496del | ENSP00000439707.2:n.-65+6482_-65+6496del | |
| NM_000350.2:c.2291_2305del | NP_000341.2:p.Cys764_Ile768del | |
| NM_000350.3:c.2291_2305del MANE Select | NP_000341.2:p.Cys764_Ile768del |