Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583262_41583263delinsCG , CM000679.2:g.41583262_41583263delinsCG | GRCh38 |
| NC_000017.10:g.39739514_39739515delinsCG , CM000679.1:g.39739514_39739515delinsCG | GRCh37 |
| NC_000017.9:g.36993040_36993041delinsCG | NCBI36 |
| NG_008624.1:g.8633_8634delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1246_1247delinsCG MANE Select | ENSP00000167586.6:p.Arg416= | |
| ENST00000167586.6:c.1246_1247delinsCG | ENSP00000167586.6:p.Arg416= | |
| ENST00000441550.2:n.193_194delinsCG | ||
| ENST00000476662.1:n.696_697delinsCG | ||
| NM_000526.4:c.1246_1247delinsCG | NP_000517.2:p.Arg416= | |
| NM_000526.5:c.1246_1247delinsCG MANE Select | NP_000517.3:p.Arg416= |