Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722259_42722262del , CM000668.2:g.42722259_42722262del | GRCh38 |
| NC_000006.11:g.42689997_42690000del , CM000668.1:g.42689997_42690000del | GRCh37 |
| NC_000006.10:g.42797975_42797978del | NCBI36 |
| NG_009176.1:g.5360_5363del | |
| NG_009176.2:g.5360_5363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.74_77del MANE Select | ENSP00000230381.5:p.Trp25SerfsTer12 | |
| ENST00000230381.6:c.74_77del | ENSP00000230381.5:p.Trp25SerfsTer12 | |
| NM_000322.4:c.74_77del | NP_000313.2:p.Trp25SerfsTer12 | |
| XR_427834.2:n.729_732del | ||
| XR_926295.1:n.729_732del | ||
| XR_427834.4:n.779_782del | ||
| XR_926295.3:n.779_782del | ||
| NM_000322.5:c.74_77del MANE Select | NP_000313.2:p.Trp25SerfsTer12 |