Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062597del , CM000663.2:g.94062597del | GRCh38 |
| NC_000001.10:g.94528153del , CM000663.1:g.94528153del | GRCh37 |
| NC_000001.9:g.94300741del | NCBI36 |
| NG_009073.1:g.63556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1920del MANE Select | ENSP00000359245.3:p.Cys641AlafsTer8 | |
| ENST00000649773.1:c.1920del | ENSP00000496882.1:p.Cys641AlafsTer8 | |
| ENST00000370225.3:c.1920del | ENSP00000359245.3:p.Cys641AlafsTer8 | |
| ENST00000536513.5:c.-65+580del | ENSP00000439707.2:n.-65+580del | |
| NM_000350.2:c.1920del | NP_000341.2:p.Cys641AlafsTer8 | |
| NM_000350.3:c.1920del MANE Select | NP_000341.2:p.Cys641AlafsTer8 |