Canonical Allele Identifier: CA2802516545
Gene: TTC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.88870274_88870275insACAT , CM000676.2:g.88870274_88870275insACAT GRCh38
NC_000014.8:g.89336618_89336619insACAT , CM000676.1:g.89336618_89336619insACAT GRCh37
NC_000014.7:g.88406371_88406372insACAT NCBI36
NG_008126.1:g.50641_50642insACAT
NG_008126.2:g.51122_51123insACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000380656.7:c.1049+76_1049+77insACAT MANE Select ENSP00000370031.2:n.1049+76_1049+77insACAT
ENST00000557580.3:c.414+76_414+77insACAT ENSP00000451955.2:n.414+76_414+77insACAT
ENST00000338104.10:c.1097+76_1097+77insACAT ENSP00000337653.6:n.1097+76_1097+77insACAT
ENST00000345383.9:c.1049+76_1049+77insACAT ENSP00000339486.6:n.1049+76_1049+77insACAT
ENST00000346301.8:c.929+76_929+77insACAT ENSP00000298324.6:n.929+76_929+77insACAT
ENST00000354441.10:c.254+76_254+77insACAT ENSP00000346427.6:n.254+76_254+77insACAT
ENST00000358622.9:c.455+76_455+77insACAT ENSP00000351439.5:n.455+76_455+77insACAT
ENST00000380656.6:c.1049+76_1049+77insACAT ENSP00000370031.2:n.1049+76_1049+77insACAT
ENST00000536576.5:c.929+76_929+77insACAT ENSP00000445067.2:n.929+76_929+77insACAT
ENST00000554686.5:c.898+76_898+77insACAT
ENST00000555057.5:c.*456+76_*456+77insACAT ENSP00000450951.1:n.*456+76_*456+77insACAT
ENST00000557580.2:c.414+76_414+77insACAT
ENST00000614125.4:c.1097+76_1097+77insACAT ENSP00000482306.1:n.1097+76_1097+77insACAT
ENST00000622513.4:c.1019+76_1019+77insACAT ENSP00000482721.1:n.1019+76_1019+77insACAT
NM_001288781.1:c.1097+76_1097+77insACAT NP_001275710.1:n.1097+76_1097+77insACAT
NM_001288782.1:c.455+76_455+77insACAT NP_001275711.1:n.455+76_455+77insACAT
NM_001288783.1:c.332+76_332+77insACAT NP_001275712.1:n.332+76_332+77insACAT
NM_144596.3:c.1049+76_1049+77insACAT NP_653197.2:n.1049+76_1049+77insACAT
NM_198309.3:c.1019+76_1019+77insACAT NP_938051.1:n.1019+76_1019+77insACAT
NM_198310.3:c.929+76_929+77insACAT NP_938052.1:n.929+76_929+77insACAT
XM_006720035.1:c.1019+76_1019+77insACAT XP_006720098.1:n.1019+76_1019+77insACAT
XM_006720037.2:c.929+76_929+77insACAT XP_006720100.1:n.929+76_929+77insACAT
XM_011536432.1:c.1097+76_1097+77insACAT XP_011534734.1:n.1097+76_1097+77insACAT
XM_011536433.1:c.1097+76_1097+77insACAT XP_011534735.1:n.1097+76_1097+77insACAT
XM_011536434.1:c.1007+76_1007+77insACAT XP_011534736.1:n.1007+76_1007+77insACAT
XM_011536435.1:c.332+76_332+77insACAT XP_011534737.1:n.332+76_332+77insACAT
NM_001366535.1:c.1019+76_1019+77insACAT NP_001353464.1:n.1019+76_1019+77insACAT
NM_001366536.1:c.929+76_929+77insACAT NP_001353465.1:n.929+76_929+77insACAT
NR_159362.1:n.1136+76_1136+77insACAT
XM_011536433.2:c.1097+76_1097+77insACAT XP_011534735.1:n.1097+76_1097+77insACAT
XM_011536434.2:c.1007+76_1007+77insACAT XP_011534736.1:n.1007+76_1007+77insACAT
XM_024449477.1:c.332+76_332+77insACAT XP_024305245.1:n.332+76_332+77insACAT
NM_001366535.2:c.1019+76_1019+77insACAT NP_001353464.1:n.1019+76_1019+77insACAT
NM_001366536.2:c.929+76_929+77insACAT NP_001353465.1:n.929+76_929+77insACAT
NR_159362.2:n.1136+76_1136+77insACAT
NM_144596.4:c.1049+76_1049+77insACAT MANE Select NP_653197.2:n.1049+76_1049+77insACAT