Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33275333_33275335delinsCTG , CM000682.2:g.33275333_33275335delinsCTG | GRCh38 |
| NC_000020.10:g.31863139_31863141delinsCTG , CM000682.1:g.31863139_31863141delinsCTG | GRCh37 |
| NC_000020.9:g.31326800_31326802delinsCTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423645.5:c.-42+1679_-42+1681delinsCTG | ENSP00000390471.1:n.-42+1679_-42+1681delinsCTG | |
| XM_024452018.1:c.-295+1679_-295+1681delinsCTG | XP_024307786.1:n.-295+1679_-295+1681delinsCTG |