Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612579_1612580insCAG , CM000668.2:g.1612579_1612580insCAG | GRCh38 |
| NC_000006.11:g.1612814_1612815insCAG , CM000668.1:g.1612814_1612815insCAG | GRCh37 |
| NC_000006.10:g.1557813_1557814insCAG | NCBI36 |
| NG_009368.1:g.7134_7135insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*472_*473insCAG MANE Select | ENSP00000493906.1:n.*472_*473insCAG | |
| ENST00000380874.3:c.*472_*473insCAG | ENSP00000370256.2:n.*472_*473insCAG | |
| NM_001453.2:c.2134_2135insCAG | NP_001444.2:n.2134_2135insCAG | |
| NM_001453.3:c.*472_*473insCAG MANE Select | NP_001444.2:n.*472_*473insCAG |