Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71943032_71943035del , CM000674.2:g.71943032_71943035del | GRCh38 |
| NC_000012.11:g.72336812_72336815del , CM000674.1:g.72336812_72336815del | GRCh37 |
| NC_000012.10:g.70623079_70623082del | NCBI36 |
| NG_008279.1:g.9187_9190del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.256-1262_256-1259del MANE Select | ENSP00000329093.3:n.256-1262_256-1259del | |
| ENST00000333850.3:c.256-1262_256-1259del | ENSP00000329093.3:n.256-1262_256-1259del | |
| ENST00000546576.1:n.266-1262_266-1259del | ||
| NM_173353.3:c.256-1262_256-1259del | NP_775489.2:n.256-1262_256-1259del | |
| XR_245894.2:n.356-1262_356-1259del | ||
| XR_001748575.1:n.356-1262_356-1259del | ||
| NM_173353.4:c.256-1262_256-1259del MANE Select | NP_775489.2:n.256-1262_256-1259del |