Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013352_25013380del , CM000685.2:g.25013352_25013380del | GRCh38 |
| NC_000023.10:g.25031469_25031497del , CM000685.1:g.25031469_25031497del | GRCh37 |
| NC_000023.9:g.24941390_24941418del | NCBI36 |
| NG_008281.1:g.7573_7601del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.619_647del MANE Select | ENSP00000368332.4:p.Val207CysfsTer21 | |
| ENST00000379044.4:c.619_647del | ENSP00000368332.4:p.Val207CysfsTer21 | |
| NM_139058.2:c.619_647del | NP_620689.1:p.Val207CysfsTer21 | |
| NM_139058.3:c.619_647del MANE Select | NP_620689.1:p.Val207CysfsTer21 |