Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71943050_71943051delinsCA , CM000674.2:g.71943050_71943051delinsCA | GRCh38 |
| NC_000012.11:g.72336830_72336831delinsCA , CM000674.1:g.72336830_72336831delinsCA | GRCh37 |
| NC_000012.10:g.70623097_70623098delinsCA | NCBI36 |
| NG_008279.1:g.9205_9206delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.256-1244_256-1243delinsCA MANE Select | ENSP00000329093.3:n.256-1244_256-1243delinsCA | |
| ENST00000333850.3:c.256-1244_256-1243delinsCA | ENSP00000329093.3:n.256-1244_256-1243delinsCA | |
| ENST00000546576.1:n.266-1244_266-1243delinsCA | ||
| NM_173353.3:c.256-1244_256-1243delinsCA | NP_775489.2:n.256-1244_256-1243delinsCA | |
| XR_245894.2:n.356-1244_356-1243delinsCA | ||
| XR_001748575.1:n.356-1244_356-1243delinsCA | ||
| NM_173353.4:c.256-1244_256-1243delinsCA MANE Select | NP_775489.2:n.256-1244_256-1243delinsCA |