ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75707853_75707854delinsCA , CM000667.2:g.75707853_75707854delinsCA | GRCh38 |
| NC_000005.9:g.75003678_75003679delinsCA , CM000667.1:g.75003678_75003679delinsCA | GRCh37 |
| NC_000005.8:g.75039434_75039435delinsCA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428202.7:c.106_107delinsTG MANE Select | ENSP00000410216.2:p.His36Cys | |
| ENST00000428202.6:c.106_107delinsTG | ENSP00000410216.2:p.His36Cys | |
| ENST00000446329.6:c.31_32delinsTG | ENSP00000399481.2:p.His11Cys | |
| ENST00000502826.5:c.-128-2067_-128-2066delinsTG | ENSP00000425726.1:n.-128-2067_-128-2066delinsTG | |
| ENST00000503835.5:c.-246_-245delinsTG | ENSP00000424264.1:n.-246_-245delinsTG | |
| ENST00000504862.5:n.90_91delinsTG | ||
| ENST00000506164.5:c.-128-2067_-128-2066delinsTG | ENSP00000425108.1:n.-128-2067_-128-2066delinsTG | |
| ENST00000507421.1:n.218_219delinsTG | ||
| ENST00000508467.5:n.245_246delinsTG | ||
| ENST00000510798.5:c.-246_-245delinsTG | ENSP00000426796.1:n.-246_-245delinsTG | |
| ENST00000512125.5:n.309_310delinsTG | ||
| ENST00000514838.6:c.106_107delinsTG | ENSP00000420971.1:p.His36Cys | |
| ENST00000515285.5:c.165_166delinsTG | ENSP00000425885.1:p.Ile56Val | |
| NM_001099271.1:c.106_107delinsTG | NP_001092741.1:p.His36Cys | |
| NM_152408.2:c.31_32delinsTG | NP_689621.2:p.His11Cys | |
| XM_005248436.1:c.106_107delinsTG | XP_005248493.1:p.His36Cys | |
| XM_005248437.3:c.106_107delinsTG | XP_005248494.2:p.His36Cys | |
| XM_011543158.1:c.106_107delinsTG | XP_011541460.1:p.His36Cys | |
| XM_011543159.1:c.-246_-245delinsTG | XP_011541461.1:n.-246_-245delinsTG | |
| XM_011543160.1:c.-246_-245delinsTG | XP_011541462.1:n.-246_-245delinsTG | |
| XM_011543158.2:c.106_107delinsTG | XP_011541460.1:p.His36Cys | |
| XM_017009037.2:c.106_107delinsTG | XP_016864526.1:p.His36Cys | |
| XM_017009040.2:c.-128-2067_-128-2066delinsTG | XP_016864529.1:n.-128-2067_-128-2066delinsTG | |
| XM_024454362.1:c.106_107delinsTG | XP_024310130.1:p.His36Cys | |
| XM_024454363.1:c.-246_-245delinsTG | XP_024310131.1:n.-246_-245delinsTG | |
| XR_001741999.1:n.303_304delinsTG | ||
| NM_001099271.2:c.106_107delinsTG MANE Select | NP_001092741.1:p.His36Cys | |
| NM_152408.3:c.31_32delinsTG | NP_689621.2:p.His11Cys |