Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21215839_21215840delinsAG , CM000674.2:g.21215839_21215840delinsAG | GRCh38 |
| NC_000012.11:g.21368773_21368774delinsAG , CM000674.1:g.21368773_21368774delinsAG | GRCh37 |
| NC_000012.10:g.21260040_21260041delinsAG | NCBI36 |
| NG_011745.1:g.89646_89647delinsAG , LRG_1022:g.89646_89647delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.1498-1280_1498-1279delinsAG MANE Select | ENSP00000256958.2:n.1498-1280_1498-1279delinsAG | |
| ENST00000256958.2:c.1498-1280_1498-1279delinsAG | ENSP00000256958.2:n.1498-1280_1498-1279delinsAG | |
| NM_006446.4:c.1498-1280_1498-1279delinsAG , LRG_1022t1:c.1498-1280_1498-1279delinsAG | NP_006437.3:n.1498-1280_1498-1279delinsAG | |
| NM_006446.5:c.1498-1280_1498-1279delinsAG MANE Select | NP_006437.3:n.1498-1280_1498-1279delinsAG |