Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007675_94007680delinsCA , CM000663.2:g.94007675_94007680delinsCA | GRCh38 |
| NC_000001.10:g.94473231_94473236delinsCA , CM000663.1:g.94473231_94473236delinsCA | GRCh37 |
| NC_000001.9:g.94245819_94245824delinsCA | NCBI36 |
| NG_009073.1:g.118470_118475delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5959_5964delinsTG MANE Select | NP_000341.2:p.Gly1987Ter |
| ENST00000370225.4:c.5959_5964delinsTG MANE Select | ENSP00000359245.3:p.Gly1987Ter |
| NM_000350.2:c.5959_5964delinsTG | NP_000341.2:p.Gly1987Ter |
| ENST00000370225.3:c.5959_5964delinsTG | ENSP00000359245.3:p.Gly1987Ter |
| ENST00000465352.1:n.375_380delinsTG | |
| ENST00000484388.1:n.73_78delinsTG | |
| ENST00000536513.5:c.2335_2340delinsTG | ENSP00000439707.2:p.Gly779Ter |