Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322592_73322596delinsCAAAG , CM000677.2:g.73322592_73322596delinsCAAAG | GRCh38 |
| NC_000015.9:g.73614933_73614937delinsCAAAG , CM000677.1:g.73614933_73614937delinsCAAAG | GRCh37 |
| NC_000015.8:g.71401986_71401990delinsCAAAG | NCBI36 |
| NG_009063.1:g.51669_51673delinsCTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3497_3501delinsCTTTG MANE Select | ENSP00000261917.3:p.Ser1166= | |
| ENST00000261917.3:c.3497_3501delinsCTTTG | ENSP00000261917.3:p.Ser1166= | |
| NM_005477.2:c.3497_3501delinsCTTTG | NP_005468.1:p.Ser1166= | |
| XM_011521148.1:c.2279_2283delinsCTTTG | XP_011519450.1:p.Ser760= | |
| XM_011521148.2:c.2279_2283delinsCTTTG | XP_011519450.1:p.Ser760= | |
| NM_005477.3:c.3497_3501delinsCTTTG MANE Select | NP_005468.1:p.Ser1166= |