Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1609992_1609993insGG , CM000668.2:g.1609992_1609993insGG | GRCh38 |
| NC_000006.11:g.1610227_1610228insGG , CM000668.1:g.1610227_1610228insGG | GRCh37 |
| NC_000006.10:g.1555226_1555227insGG | NCBI36 |
| NG_009368.1:g.4547_4548insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-454_-453insGG MANE Select | ENSP00000493906.1:n.-454_-453insGG | |
| ENST00000380874.3:c.-454_-453insGG | ENSP00000370256.2:n.-454_-453insGG | |
| NM_001453.3:c.-454_-453insGG MANE Select | NP_001444.2:n.-454_-453insGG |