Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610010_1610011insGGGGGGGGGGGGGGGGG , CM000668.2:g.1610010_1610011insGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000006.11:g.1610245_1610246insGGGGGGGGGGGGGGGGG , CM000668.1:g.1610245_1610246insGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000006.10:g.1555244_1555245insGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_009368.1:g.4565_4566insGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-436_-435insGGGGGGGGGGGGGGGGG MANE Select | ENSP00000493906.1:n.-436_-435insGGGGGGGGGGGGGGGGG | |
| ENST00000380874.3:c.-436_-435insGGGGGGGGGGGGGGGGG | ENSP00000370256.2:n.-436_-435insGGGGGGGGGGGGGGGGG | |
| NM_001453.3:c.-436_-435insGGGGGGGGGGGGGGGGG MANE Select | NP_001444.2:n.-436_-435insGGGGGGGGGGGGGGGGG |