Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45462227_45462229delinsCAG , CM000667.2:g.45462227_45462229delinsCAG | GRCh38 |
| NC_000005.9:g.45462329_45462331delinsCAG , CM000667.1:g.45462329_45462331delinsCAG | GRCh37 |
| NC_000005.8:g.45498086_45498088delinsCAG | NCBI36 |
| NG_042183.1:g.238890_238892delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.850-222_850-220delinsCTG MANE Select | ENSP00000307342.4:n.850-222_850-220delinsCTG | |
| ENST00000637305.1:n.13-222_13-220delinsCTG | ||
| ENST00000673735.1:c.850-222_850-220delinsCTG | ENSP00000501107.1:n.850-222_850-220delinsCTG | |
| ENST00000303230.5:c.850-222_850-220delinsCTG | ENSP00000307342.4:n.850-222_850-220delinsCTG | |
| NM_021072.3:c.850-222_850-220delinsCTG | NP_066550.2:n.850-222_850-220delinsCTG | |
| NM_021072.4:c.850-222_850-220delinsCTG MANE Select | NP_066550.2:n.850-222_850-220delinsCTG |