Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165487458del , CM000666.2:g.165487458del | GRCh38 |
| NC_000004.11:g.166408610del , CM000666.1:g.166408610del | GRCh37 |
| NC_000004.10:g.166628060del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402744.9:c.994del MANE Select | ENSP00000386104.4:p.Ser333AlafsTer22 | |
| ENST00000402744.8:c.994del | ENSP00000386104.4:p.Ser333AlafsTer22 | |
| NM_001873.2:c.994del | NP_001864.1:p.Ser333AlafsTer22 | |
| NM_001873.3:c.994del | NP_001864.1:p.Ser333AlafsTer22 | |
| NM_001873.4:c.994del MANE Select | NP_001864.1:p.Ser333AlafsTer22 |