Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226959_5226960delinsGG , CM000673.2:g.5226959_5226960delinsGG | GRCh38 |
| NC_000011.9:g.5248189_5248190delinsGG , CM000673.1:g.5248189_5248190delinsGG | GRCh37 |
| NC_000011.8:g.5204765_5204766delinsGG | NCBI36 |
| NG_000007.3:g.70656_70657delinsCC | |
| NG_059281.1:g.5112_5113delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.62_63delinsCC MANE Select | NP_000509.1:p.Val21Ala |
| ENST00000335295.4:c.62_63delinsCC MANE Select | ENSP00000333994.3:p.Val21Ala |
| NM_000518.4:c.62_63delinsCC | NP_000509.1:p.Val21Ala |
| ENST00000380315.2:c.62_63delinsCC | ENSP00000369671.2:p.Val21Ala |
| ENST00000485743.1:n.113_114delinsCC | |
| ENST00000633227.1:c.62_63delinsCC | ENSP00000488004.1:p.Val21Ala |
| ENST00000647020.1:c.62_63delinsCC | ENSP00000494175.1:p.Val21Ala |