Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610406_1610423delinsGGGGGCGGCGGGCGGCGC , CM000668.2:g.1610406_1610423delinsGGGGGCGGCGGGCGGCGC | GRCh38 |
| NC_000006.11:g.1610641_1610658delinsGGGGGCGGCGGGCGGCGC , CM000668.1:g.1610641_1610658delinsGGGGGCGGCGGGCGGCGC | GRCh37 |
| NC_000006.10:g.1555640_1555657delinsGGGGGCGGCGGGCGGCGC | NCBI36 |
| NG_009368.1:g.4961_4978delinsGGGGGCGGCGGGCGGCGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-40_-23delinsGGGGGCGGCGGGCGGCGC MANE Select | ENSP00000493906.1:n.-40_-23delinsGGGGGCGG... | |
| ENST00000380874.3:c.-40_-23delinsGGGGGCGGCGGGCGGCGC | ENSP00000370256.2:n.-40_-23delinsGGGGGCGG... | |
| NM_001453.3:c.-40_-23delinsGGGGGCGGCGGGCGGCGC MANE Select | NP_001444.2:n.-40_-23delinsGGGGGCGGCGGGCG... |