Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391790_98391792delinsCAG , CM000669.2:g.98391790_98391792delinsCAG | GRCh38 |
| NC_000007.13:g.98021102_98021104delinsCAG , CM000669.1:g.98021102_98021104delinsCAG | GRCh37 |
| NC_000007.12:g.97859038_97859040delinsCAG | NCBI36 |
| NG_013090.1:g.14324_14326delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+9010_51+9012delinsCTG MANE Select | ENSP00000005260.8:n.51+9010_51+9012delinsCTG | |
| ENST00000005260.8:c.51+9010_51+9012delinsCTG | ENSP00000005260.8:n.51+9010_51+9012delinsCTG | |
| ENST00000462558.5:n.267+9010_267+9012delinsCTG | ||
| ENST00000479789.1:n.357+8189_357+8191delinsCTG | ||
| NM_018842.4:c.51+9010_51+9012delinsCTG | NP_061330.2:n.51+9010_51+9012delinsCTG | |
| NM_018842.5:c.51+9010_51+9012delinsCTG MANE Select | NP_061330.2:n.51+9010_51+9012delinsCTG |