Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454385_7454386del , CM000679.2:g.7454385_7454386del | GRCh38 |
| NC_000017.10:g.7357704_7357705del , CM000679.1:g.7357704_7357705del | GRCh37 |
| NC_000017.9:g.7298428_7298429del | NCBI36 |
| NG_008026.1:g.14299_14300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.909_910del MANE Select | ENSP00000304290.2:p.Val305ThrfsTer21 | |
| ENST00000306071.6:c.909_910del | ENSP00000304290.2:p.Val305ThrfsTer21 | |
| ENST00000536404.6:c.693_694del | ENSP00000439209.2:p.Val233ThrfsTer21 | |
| ENST00000570557.5:c.572_573del | ||
| ENST00000573209.1:n.1853_1854del | ||
| ENST00000576360.1:c.605-59_605-58del | ENSP00000459092.1:n.605-59_605-58del | |
| NM_000747.2:c.909_910del | NP_000738.2:p.Val305ThrfsTer21 | |
| NM_000747.3:c.909_910del MANE Select | NP_000738.2:p.Val305ThrfsTer21 |