Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26599664del , CM000684.2:g.26599664del | GRCh38 |
| NC_000022.10:g.26995628del , CM000684.1:g.26995628del | GRCh37 |
| NC_000022.9:g.25325628del | NCBI36 |
| NG_009826.1:g.23364del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001887.4:c.585del MANE Select | NP_001878.1:p.Tyr196IlefsTer13 |
| ENST00000647684.1:c.585del MANE Select | ENSP00000497249.1:p.Tyr196IlefsTer13 |
| NM_001887.3:c.585del | NP_001878.1:p.Tyr196IlefsTer13 |
| ENST00000215939.2:c.585del | ENSP00000215939.2:p.Tyr196IlefsTer13 |
| XM_011529899.1:c.585del | XP_011528201.1:p.Tyr196IlefsTer13 |
| XM_011529899.3:c.585del | XP_011528201.1:p.Tyr196IlefsTer13 |