Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853765del , CM000685.2:g.46853765del | GRCh38 |
| NC_000023.10:g.46713200del , CM000685.1:g.46713200del | GRCh37 |
| NC_000023.9:g.46598144del | NCBI36 |
| NG_009107.1:g.21854del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218340.4:c.392del MANE Select | ENSP00000218340.3:p.Cys131LeufsTer25 | |
| ENST00000218340.3:c.392del | ENSP00000218340.3:p.Cys131LeufsTer25 | |
| NM_006915.2:c.392del | NP_008846.2:p.Cys131LeufsTer25 | |
| NM_006915.3:c.392del MANE Select | NP_008846.2:p.Cys131LeufsTer25 |