Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046953_94046954delinsGG , CM000663.2:g.94046953_94046954delinsGG | GRCh38 |
| NC_000001.10:g.94512509_94512510delinsGG , CM000663.1:g.94512509_94512510delinsGG | GRCh37 |
| NC_000001.9:g.94285097_94285098delinsGG | NCBI36 |
| NG_009073.1:g.79196_79197delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2883_2884delinsCC MANE Select | ENSP00000359245.3:p.Phe961= | |
| ENST00000649773.1:c.2661_2662delinsCC | ENSP00000496882.1:p.Phe887= | |
| ENST00000370225.3:c.2883_2884delinsCC | ENSP00000359245.3:p.Phe961= | |
| ENST00000536513.5:c.-64-6865_-64-6864delinsCC | ENSP00000439707.2:n.-64-6865_-64-6864delinsCC | |
| NM_000350.2:c.2883_2884delinsCC | NP_000341.2:p.Phe961= | |
| NM_000350.3:c.2883_2884delinsCC MANE Select | NP_000341.2:p.Phe961= |