Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226950_5226952del , CM000673.2:g.5226950_5226952del | GRCh38 |
| NC_000011.9:g.5248180_5248182del , CM000673.1:g.5248180_5248182del | GRCh37 |
| NC_000011.8:g.5204756_5204758del | NCBI36 |
| NG_000007.3:g.70665_70667del | |
| NG_059281.1:g.5121_5123del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.71_73del | ENSP00000494175.1:p.Val24del | |
| ENST00000335295.4:c.71_73del MANE Select | ENSP00000333994.3:p.Val24del | |
| ENST00000380315.2:c.71_73del | ENSP00000369671.2:p.Val24del | |
| ENST00000485743.1:n.122_124del | ||
| ENST00000633227.1:c.71_73del | ENSP00000488004.1:p.Val24del | |
| NM_000518.4:c.71_73del | NP_000509.1:p.Val24del | |
| NM_000518.5:c.71_73del MANE Select | NP_000509.1:p.Val24del |