Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610015_1610016insGGGC , CM000668.2:g.1610015_1610016insGGGC | GRCh38 |
| NC_000006.11:g.1610250_1610251insGGGC , CM000668.1:g.1610250_1610251insGGGC | GRCh37 |
| NC_000006.10:g.1555249_1555250insGGGC | NCBI36 |
| NG_009368.1:g.4570_4571insGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-431_-430insGGGC MANE Select | ENSP00000493906.1:n.-431_-430insGGGC | |
| ENST00000380874.3:c.-431_-430insGGGC | ENSP00000370256.2:n.-431_-430insGGGC | |
| NM_001453.3:c.-431_-430insGGGC MANE Select | NP_001444.2:n.-431_-430insGGGC |