Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323196_73323197delinsCT , CM000677.2:g.73323196_73323197delinsCT | GRCh38 |
| NC_000015.9:g.73615537_73615538delinsCT , CM000677.1:g.73615537_73615538delinsCT | GRCh37 |
| NC_000015.8:g.71402590_71402591delinsCT | NCBI36 |
| NG_009063.1:g.51068_51069delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.2896_2897delinsAG MANE Select | ENSP00000261917.3:p.Arg966= | |
| ENST00000261917.3:c.2896_2897delinsAG | ENSP00000261917.3:p.Arg966= | |
| NM_005477.2:c.2896_2897delinsAG | NP_005468.1:p.Arg966= | |
| XM_011521148.1:c.1678_1679delinsAG | XP_011519450.1:p.Arg560= | |
| XM_011521148.2:c.1678_1679delinsAG | XP_011519450.1:p.Arg560= | |
| NM_005477.3:c.2896_2897delinsAG MANE Select | NP_005468.1:p.Arg966= |