Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322587_73322591delinsCCAAA , CM000677.2:g.73322587_73322591delinsCCAAA | GRCh38 |
| NC_000015.9:g.73614928_73614932delinsCCAAA , CM000677.1:g.73614928_73614932delinsCCAAA | GRCh37 |
| NC_000015.8:g.71401981_71401985delinsCCAAA | NCBI36 |
| NG_009063.1:g.51674_51678delinsTTTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3502_3506delinsTTTGG MANE Select | ENSP00000261917.3:p.Phe1168= | |
| ENST00000261917.3:c.3502_3506delinsTTTGG | ENSP00000261917.3:p.Phe1168= | |
| NM_005477.2:c.3502_3506delinsTTTGG | NP_005468.1:p.Phe1168= | |
| XM_011521148.1:c.2284_2288delinsTTTGG | XP_011519450.1:p.Phe762= | |
| XM_011521148.2:c.2284_2288delinsTTTGG | XP_011519450.1:p.Phe762= | |
| NM_005477.3:c.3502_3506delinsTTTGG MANE Select | NP_005468.1:p.Phe1168= |