Canonical Allele Identifier: CA2802516547
Gene: TTC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.88870278_88870279insACT , CM000676.2:g.88870278_88870279insACT GRCh38
NC_000014.8:g.89336622_89336623insACT , CM000676.1:g.89336622_89336623insACT GRCh37
NC_000014.7:g.88406375_88406376insACT NCBI36
NG_008126.1:g.50645_50646insACT
NG_008126.2:g.51126_51127insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380656.7:c.1049+80_1049+81insACT MANE Select ENSP00000370031.2:n.1049+80_1049+81insACT
ENST00000557580.3:c.414+80_414+81insACT ENSP00000451955.2:n.414+80_414+81insACT
ENST00000338104.10:c.1097+80_1097+81insACT ENSP00000337653.6:n.1097+80_1097+81insACT
ENST00000345383.9:c.1049+80_1049+81insACT ENSP00000339486.6:n.1049+80_1049+81insACT
ENST00000346301.8:c.929+80_929+81insACT ENSP00000298324.6:n.929+80_929+81insACT
ENST00000354441.10:c.254+80_254+81insACT ENSP00000346427.6:n.254+80_254+81insACT
ENST00000358622.9:c.455+80_455+81insACT ENSP00000351439.5:n.455+80_455+81insACT
ENST00000380656.6:c.1049+80_1049+81insACT ENSP00000370031.2:n.1049+80_1049+81insACT
ENST00000536576.5:c.929+80_929+81insACT ENSP00000445067.2:n.929+80_929+81insACT
ENST00000554686.5:c.898+80_898+81insACT
ENST00000555057.5:c.*456+80_*456+81insACT ENSP00000450951.1:n.*456+80_*456+81insACT
ENST00000557580.2:c.414+80_414+81insACT
ENST00000614125.4:c.1097+80_1097+81insACT ENSP00000482306.1:n.1097+80_1097+81insACT
ENST00000622513.4:c.1019+80_1019+81insACT ENSP00000482721.1:n.1019+80_1019+81insACT
NM_001288781.1:c.1097+80_1097+81insACT NP_001275710.1:n.1097+80_1097+81insACT
NM_001288782.1:c.455+80_455+81insACT NP_001275711.1:n.455+80_455+81insACT
NM_001288783.1:c.332+80_332+81insACT NP_001275712.1:n.332+80_332+81insACT
NM_144596.3:c.1049+80_1049+81insACT NP_653197.2:n.1049+80_1049+81insACT
NM_198309.3:c.1019+80_1019+81insACT NP_938051.1:n.1019+80_1019+81insACT
NM_198310.3:c.929+80_929+81insACT NP_938052.1:n.929+80_929+81insACT
XM_006720035.1:c.1019+80_1019+81insACT XP_006720098.1:n.1019+80_1019+81insACT
XM_006720037.2:c.929+80_929+81insACT XP_006720100.1:n.929+80_929+81insACT
XM_011536432.1:c.1097+80_1097+81insACT XP_011534734.1:n.1097+80_1097+81insACT
XM_011536433.1:c.1097+80_1097+81insACT XP_011534735.1:n.1097+80_1097+81insACT
XM_011536434.1:c.1007+80_1007+81insACT XP_011534736.1:n.1007+80_1007+81insACT
XM_011536435.1:c.332+80_332+81insACT XP_011534737.1:n.332+80_332+81insACT
NM_001366535.1:c.1019+80_1019+81insACT NP_001353464.1:n.1019+80_1019+81insACT
NM_001366536.1:c.929+80_929+81insACT NP_001353465.1:n.929+80_929+81insACT
NR_159362.1:n.1136+80_1136+81insACT
XM_011536433.2:c.1097+80_1097+81insACT XP_011534735.1:n.1097+80_1097+81insACT
XM_011536434.2:c.1007+80_1007+81insACT XP_011534736.1:n.1007+80_1007+81insACT
XM_024449477.1:c.332+80_332+81insACT XP_024305245.1:n.332+80_332+81insACT
NM_001366535.2:c.1019+80_1019+81insACT NP_001353464.1:n.1019+80_1019+81insACT
NM_001366536.2:c.929+80_929+81insACT NP_001353465.1:n.929+80_929+81insACT
NR_159362.2:n.1136+80_1136+81insACT
NM_144596.4:c.1049+80_1049+81insACT MANE Select NP_653197.2:n.1049+80_1049+81insACT