Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72011426_72011427delinsGA , CM000674.2:g.72011426_72011427delinsGA | GRCh38 |
| NC_000012.11:g.72405206_72405207delinsGA , CM000674.1:g.72405206_72405207delinsGA | GRCh37 |
| NC_000012.10:g.70691473_70691474delinsGA | NCBI36 |
| NG_008279.1:g.77581_77582delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-10973_1069-10972delinsGA MANE Select | ENSP00000329093.3:n.1069-10973_1069-10972delinsGA | |
| ENST00000333850.3:c.1069-10973_1069-10972delinsGA | ENSP00000329093.3:n.1069-10973_1069-10972delinsGA | |
| NM_173353.3:c.1069-10973_1069-10972delinsGA | NP_775489.2:n.1069-10973_1069-10972delinsGA | |
| XM_011537899.1:c.475-10973_475-10972delinsGA | XP_011536201.1:n.475-10973_475-10972delinsGA | |
| NM_173353.4:c.1069-10973_1069-10972delinsGA MANE Select | NP_775489.2:n.1069-10973_1069-10972delinsGA |