Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71942824_71942829del , CM000674.2:g.71942824_71942829del | GRCh38 |
| NC_000012.11:g.72336604_72336609del , CM000674.1:g.72336604_72336609del | GRCh37 |
| NC_000012.10:g.70622871_70622876del | NCBI36 |
| NG_008279.1:g.8979_8984del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.255+1091_255+1096del MANE Select | ENSP00000329093.3:n.255+1091_255+1096del | |
| ENST00000333850.3:c.255+1091_255+1096del | ENSP00000329093.3:n.255+1091_255+1096del | |
| ENST00000546576.1:n.265+1091_265+1096del | ||
| NM_173353.3:c.255+1091_255+1096del | NP_775489.2:n.255+1091_255+1096del | |
| XR_245894.2:n.355+1091_355+1096del | ||
| XR_001748575.1:n.355+1091_355+1096del | ||
| NM_173353.4:c.255+1091_255+1096del MANE Select | NP_775489.2:n.255+1091_255+1096del |