Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72011385_72011386delinsAT , CM000674.2:g.72011385_72011386delinsAT | GRCh38 |
| NC_000012.11:g.72405165_72405166delinsAT , CM000674.1:g.72405165_72405166delinsAT | GRCh37 |
| NC_000012.10:g.70691432_70691433delinsAT | NCBI36 |
| NG_008279.1:g.77540_77541delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-11014_1069-11013delinsAT MANE Select | ENSP00000329093.3:n.1069-11014_1069-11013delinsAT | |
| ENST00000333850.3:c.1069-11014_1069-11013delinsAT | ENSP00000329093.3:n.1069-11014_1069-11013delinsAT | |
| NM_173353.3:c.1069-11014_1069-11013delinsAT | NP_775489.2:n.1069-11014_1069-11013delinsAT | |
| XM_011537899.1:c.475-11014_475-11013delinsAT | XP_011536201.1:n.475-11014_475-11013delinsAT | |
| NM_173353.4:c.1069-11014_1069-11013delinsAT MANE Select | NP_775489.2:n.1069-11014_1069-11013delinsAT |