Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043463_94043464delinsAG , CM000663.2:g.94043463_94043464delinsAG | GRCh38 |
| NC_000001.10:g.94509019_94509020delinsAG , CM000663.1:g.94509019_94509020delinsAG | GRCh37 |
| NC_000001.9:g.94281607_94281608delinsAG | NCBI36 |
| NG_009073.1:g.82686_82687delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3062_3063delinsCT MANE Select | ENSP00000359245.3:p.Ala1021= | |
| ENST00000370225.3:c.3062_3063delinsCT | ENSP00000359245.3:p.Ala1021= | |
| ENST00000536513.5:c.-64-3375_-64-3374delinsCT | ENSP00000439707.2:n.-64-3375_-64-3374delinsCT | |
| NM_000350.2:c.3062_3063delinsCT | NP_000341.2:p.Ala1021= | |
| NM_000350.3:c.3062_3063delinsCT MANE Select | NP_000341.2:p.Ala1021= |