Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610016_1610017insGGG , CM000668.2:g.1610016_1610017insGGG | GRCh38 |
| NC_000006.11:g.1610251_1610252insGGG , CM000668.1:g.1610251_1610252insGGG | GRCh37 |
| NC_000006.10:g.1555250_1555251insGGG | NCBI36 |
| NG_009368.1:g.4571_4572insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-430_-429insGGG MANE Select | ENSP00000493906.1:n.-430_-429insGGG | |
| ENST00000380874.3:c.-430_-429insGGG | ENSP00000370256.2:n.-430_-429insGGG | |
| NM_001453.3:c.-430_-429insGGG MANE Select | NP_001444.2:n.-430_-429insGGG |