Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270023_31270024delinsCA , CM000668.2:g.31270023_31270024delinsCA | GRCh38 |
| NC_000006.11:g.31237800_31237801delinsCA , CM000668.1:g.31237800_31237801delinsCA | GRCh37 |
| NC_000006.10:g.31345779_31345780delinsCA | NCBI36 |
| NG_029422.2:g.7108_7109delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.957_958delinsTG MANE Select | ENSP00000365402.5:p.Val319= | |
| ENST00000376228.9:c.957_958delinsTG | ENSP00000365402.5:p.Val319= | |
| ENST00000376237.8:c.*544_*545delinsTG | ENSP00000365412.4:n.*544_*545delinsTG | |
| ENST00000383329.7:c.957_958delinsTG | ENSP00000372819.3:p.Val319= | |
| ENST00000470363.5:n.275_276delinsTG | ||
| ENST00000487245.5:n.1316_1317delinsTG | ||
| NM_002117.5:c.957_958delinsTG | NP_002108.4:p.Val319= | |
| NM_002117.6:c.957_958delinsTG MANE Select | NP_002108.4:p.Val319= |