Canonical Allele Identifier: CA2802516541

Gene: TTC8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.88870269_88870271del , CM000676.2:g.88870269_88870271del	GRCh38
NC_000014.8:g.89336613_89336615del , CM000676.1:g.89336613_89336615del	GRCh37
NC_000014.7:g.88406366_88406368del	NCBI36
NG_008126.1:g.50636_50638del
NG_008126.2:g.51117_51119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380656.7:c.1049+71_1049+73del MANE Select	ENSP00000370031.2:n.1049+71_1049+73del
ENST00000557580.3:c.414+71_414+73del	ENSP00000451955.2:n.414+71_414+73del
ENST00000338104.10:c.1097+71_1097+73del	ENSP00000337653.6:n.1097+71_1097+73del
ENST00000345383.9:c.1049+71_1049+73del	ENSP00000339486.6:n.1049+71_1049+73del
ENST00000346301.8:c.929+71_929+73del	ENSP00000298324.6:n.929+71_929+73del
ENST00000354441.10:c.254+71_254+73del	ENSP00000346427.6:n.254+71_254+73del
ENST00000358622.9:c.455+71_455+73del	ENSP00000351439.5:n.455+71_455+73del
ENST00000380656.6:c.1049+71_1049+73del	ENSP00000370031.2:n.1049+71_1049+73del
ENST00000536576.5:c.929+71_929+73del	ENSP00000445067.2:n.929+71_929+73del
ENST00000554686.5:c.898+71_898+73del
ENST00000555057.5:c.*456+71_*456+73del	ENSP00000450951.1:n.*456+71_*456+73del
ENST00000557580.2:c.414+71_414+73del
ENST00000614125.4:c.1097+71_1097+73del	ENSP00000482306.1:n.1097+71_1097+73del
ENST00000622513.4:c.1019+71_1019+73del	ENSP00000482721.1:n.1019+71_1019+73del
NM_001288781.1:c.1097+71_1097+73del	NP_001275710.1:n.1097+71_1097+73del
NM_001288782.1:c.455+71_455+73del	NP_001275711.1:n.455+71_455+73del
NM_001288783.1:c.332+71_332+73del	NP_001275712.1:n.332+71_332+73del
NM_144596.3:c.1049+71_1049+73del	NP_653197.2:n.1049+71_1049+73del
NM_198309.3:c.1019+71_1019+73del	NP_938051.1:n.1019+71_1019+73del
NM_198310.3:c.929+71_929+73del	NP_938052.1:n.929+71_929+73del
XM_006720035.1:c.1019+71_1019+73del	XP_006720098.1:n.1019+71_1019+73del
XM_006720037.2:c.929+71_929+73del	XP_006720100.1:n.929+71_929+73del
XM_011536432.1:c.1097+71_1097+73del	XP_011534734.1:n.1097+71_1097+73del
XM_011536433.1:c.1097+71_1097+73del	XP_011534735.1:n.1097+71_1097+73del
XM_011536434.1:c.1007+71_1007+73del	XP_011534736.1:n.1007+71_1007+73del
XM_011536435.1:c.332+71_332+73del	XP_011534737.1:n.332+71_332+73del
NM_001366535.1:c.1019+71_1019+73del	NP_001353464.1:n.1019+71_1019+73del
NM_001366536.1:c.929+71_929+73del	NP_001353465.1:n.929+71_929+73del
NR_159362.1:n.1136+71_1136+73del
XM_011536433.2:c.1097+71_1097+73del	XP_011534735.1:n.1097+71_1097+73del
XM_011536434.2:c.1007+71_1007+73del	XP_011534736.1:n.1007+71_1007+73del
XM_024449477.1:c.332+71_332+73del	XP_024305245.1:n.332+71_332+73del
NM_001366535.2:c.1019+71_1019+73del	NP_001353464.1:n.1019+71_1019+73del
NM_001366536.2:c.929+71_929+73del	NP_001353465.1:n.929+71_929+73del
NR_159362.2:n.1136+71_1136+73del
NM_144596.4:c.1049+71_1049+73del MANE Select	NP_653197.2:n.1049+71_1049+73del