Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827147del , CM000667.2:g.148827147del | GRCh38 |
| NC_000005.9:g.148206710del , CM000667.1:g.148206710del | GRCh37 |
| NC_000005.8:g.148186903del | NCBI36 |
| NG_016421.1:g.5555del | |
| NG_016421.2:g.5555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.316del MANE Select | ENSP00000305372.4:p.Cys106AlafsTer21 | |
| ENST00000305988.5:c.316del | ENSP00000305372.4:p.Cys106AlafsTer21 | |
| NM_000024.5:c.316del | NP_000015.1:p.Cys106AlafsTer21 | |
| NM_000024.6:c.316del MANE Select | NP_000015.2:p.Cys106AlafsTer21 |