Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71943034_71943035insGCT , CM000674.2:g.71943034_71943035insGCT | GRCh38 |
| NC_000012.11:g.72336814_72336815insGCT , CM000674.1:g.72336814_72336815insGCT | GRCh37 |
| NC_000012.10:g.70623081_70623082insGCT | NCBI36 |
| NG_008279.1:g.9189_9190insGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.256-1260_256-1259insGCT MANE Select | ENSP00000329093.3:n.256-1260_256-1259insGCT | |
| ENST00000333850.3:c.256-1260_256-1259insGCT | ENSP00000329093.3:n.256-1260_256-1259insGCT | |
| ENST00000546576.1:n.266-1260_266-1259insGCT | ||
| NM_173353.3:c.256-1260_256-1259insGCT | NP_775489.2:n.256-1260_256-1259insGCT | |
| XR_245894.2:n.356-1260_356-1259insGCT | ||
| XR_001748575.1:n.356-1260_356-1259insGCT | ||
| NM_173353.4:c.256-1260_256-1259insGCT MANE Select | NP_775489.2:n.256-1260_256-1259insGCT |