Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72018778_72018779delinsAT , CM000674.2:g.72018778_72018779delinsAT | GRCh38 |
| NC_000012.11:g.72412558_72412559delinsAT , CM000674.1:g.72412558_72412559delinsAT | GRCh37 |
| NC_000012.10:g.70698825_70698826delinsAT | NCBI36 |
| NG_008279.1:g.84933_84934delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-3621_1069-3620delinsAT MANE Select | ENSP00000329093.3:n.1069-3621_1069-3620delinsAT | |
| ENST00000333850.3:c.1069-3621_1069-3620delinsAT | ENSP00000329093.3:n.1069-3621_1069-3620delinsAT | |
| NM_173353.3:c.1069-3621_1069-3620delinsAT | NP_775489.2:n.1069-3621_1069-3620delinsAT | |
| XM_011537899.1:c.475-3621_475-3620delinsAT | XP_011536201.1:n.475-3621_475-3620delinsAT | |
| NM_173353.4:c.1069-3621_1069-3620delinsAT MANE Select | NP_775489.2:n.1069-3621_1069-3620delinsAT |