Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013358_25013359del , CM000685.2:g.25013358_25013359del | GRCh38 |
| NC_000023.10:g.25031475_25031476del , CM000685.1:g.25031475_25031476del | GRCh37 |
| NC_000023.9:g.24941396_24941397del | NCBI36 |
| NG_008281.1:g.7590_7591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.636_637del MANE Select | ENSP00000368332.4:p.Ser213ArgfsTer24 | |
| ENST00000379044.4:c.636_637del | ENSP00000368332.4:p.Ser213ArgfsTer24 | |
| NM_139058.2:c.636_637del | NP_620689.1:p.Ser213ArgfsTer24 | |
| NM_139058.3:c.636_637del MANE Select | NP_620689.1:p.Ser213ArgfsTer24 |