Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610019_1610020insGCC , CM000668.2:g.1610019_1610020insGCC | GRCh38 |
| NC_000006.11:g.1610254_1610255insGCC , CM000668.1:g.1610254_1610255insGCC | GRCh37 |
| NC_000006.10:g.1555253_1555254insGCC | NCBI36 |
| NG_009368.1:g.4574_4575insGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-427_-426insGCC MANE Select | ENSP00000493906.1:n.-427_-426insGCC | |
| ENST00000380874.3:c.-427_-426insGCC | ENSP00000370256.2:n.-427_-426insGCC | |
| NM_001453.3:c.-427_-426insGCC MANE Select | NP_001444.2:n.-427_-426insGCC |