Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.10934_10935insGGGGGCGGGGGGGGGCCCGGGGGCGGGGGGGGGCCGGGGGGGG , J01415.2:m.10934_10935insGGGGGCGGGGGGGGGCCCGGGGGCGGGGGGGGGCCGGGGGGGG | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361381.2:c.175_176insGGGGGCGGGGGGGGGCCCGGGGGCGGGGGGGGGCCGGGGGGGG | ENSP00000354961.2:p.Asp59GlyfsTer43 |