Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226948_5226951delinsCCAA , CM000673.2:g.5226948_5226951delinsCCAA | GRCh38 |
| NC_000011.9:g.5248178_5248181delinsCCAA , CM000673.1:g.5248178_5248181delinsCCAA | GRCh37 |
| NC_000011.8:g.5204754_5204757delinsCCAA | NCBI36 |
| NG_000007.3:g.70665_70668delinsTTGG | |
| NG_059281.1:g.5121_5124delinsTTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.71_74delinsTTGG | ENSP00000494175.1:p.Val24= | |
| ENST00000335295.4:c.71_74delinsTTGG MANE Select | ENSP00000333994.3:p.Val24= | |
| ENST00000380315.2:c.71_74delinsTTGG | ENSP00000369671.2:p.Val24= | |
| ENST00000485743.1:n.122_125delinsTTGG | ||
| ENST00000633227.1:c.71_74delinsTTGG | ENSP00000488004.1:p.Val24= | |
| NM_000518.4:c.71_74delinsTTGG | NP_000509.1:p.Val24= | |
| NM_000518.5:c.71_74delinsTTGG MANE Select | NP_000509.1:p.Val24= |