Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001952_94001956delinsTAGAC , CM000663.2:g.94001952_94001956delinsTAGAC | GRCh38 |
| NC_000001.10:g.94467508_94467512delinsTAGAC , CM000663.1:g.94467508_94467512delinsTAGAC | GRCh37 |
| NC_000001.9:g.94240096_94240100delinsTAGAC | NCBI36 |
| NG_009073.1:g.124194_124198delinsGTCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6184_6188delinsGTCTA MANE Select | ENSP00000359245.3:p.Val2062= | |
| ENST00000370225.3:c.6184_6188delinsGTCTA | ENSP00000359245.3:p.Val2062= | |
| ENST00000465352.1:n.600_604delinsGTCTA | ||
| ENST00000536513.5:c.2560_2564delinsGTCTA | ENSP00000439707.2:p.Val854= | |
| NM_000350.2:c.6184_6188delinsGTCTA | NP_000341.2:p.Val2062= | |
| NM_000350.3:c.6184_6188delinsGTCTA MANE Select | NP_000341.2:p.Val2062= |