Canonical Allele Identifier: CA2495604506

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002953_47002964delinsTGAGGGCCTATC , CM000664.2:g.47002953_47002964delinsTGAGGGCCTATC	GRCh38
NC_000002.11:g.47230092_47230103delinsTGAGGGCCTATC , CM000664.1:g.47230092_47230103delinsTGAGGGCCTATC	GRCh37
NC_000002.10:g.47083596_47083607delinsTGAGGGCCTATC	NCBI36
NG_034143.1:g.91825_91836delinsTGAGGGCCTATC
NG_034143.2:g.91825_91836delinsTGAGGGCCTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-2969_2899-2958delinsTGAGGGCCTATC
ENST00000319190.11:c.1066-2969_1066-2958delinsTGAGGGCCTATC MANE Select	ENSP00000316699.5:n.1066-2969_1066-2958delinsTGAGGGCCTATC
ENST00000319190.9:c.1066-2969_1066-2958delinsTGAGGGCCTATC	ENSP00000316699.5:n.1066-2969_1066-2958delinsTGAGGGCCTATC
ENST00000394850.6:c.1066-2969_1066-2958delinsTGAGGGCCTATC	ENSP00000378320.2:n.1066-2969_1066-2958delinsTGAGGGCCTATC
ENST00000409245.5:c.964-2969_964-2958delinsTGAGGGCCTATC	ENSP00000386307.1:n.964-2969_964-2958delinsTGAGGGCCTATC
ENST00000409825.5:c.1014-2969_1014-2958delinsTGAGGGCCTATC
ENST00000441914.5:c.907-2969_907-2958delinsTGAGGGCCTATC
ENST00000461601.5:n.1391-2969_1391-2958delinsTGAGGGCCTATC
ENST00000474321.6:n.550-2969_550-2958delinsTGAGGGCCTATC
ENST00000484061.5:n.349-2969_349-2958delinsTGAGGGCCTATC
ENST00000491786.5:n.470-2969_470-2958delinsTGAGGGCCTATC
NM_001288951.1:c.1066-2969_1066-2958delinsTGAGGGCCTATC	NP_001275880.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
NM_001288953.1:c.964-2969_964-2958delinsTGAGGGCCTATC	NP_001275882.1:n.964-2969_964-2958delinsTGAGGGCCTATC
NM_001288955.1:c.4-2969_4-2958delinsTGAGGGCCTATC	NP_001275884.1:n.4-2969_4-2958delinsTGAGGGCCTATC
NM_020458.3:c.1066-2969_1066-2958delinsTGAGGGCCTATC	NP_065191.2:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_005264439.2:c.709-2969_709-2958delinsTGAGGGCCTATC	XP_005264496.1:n.709-2969_709-2958delinsTGAGGGCCTATC
XM_011532998.1:c.709-2969_709-2958delinsTGAGGGCCTATC	XP_011531300.1:n.709-2969_709-2958delinsTGAGGGCCTATC
XM_011532999.1:c.1066-2969_1066-2958delinsTGAGGGCCTATC	XP_011531301.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_011533000.1:c.286-2969_286-2958delinsTGAGGGCCTATC	XP_011531302.1:n.286-2969_286-2958delinsTGAGGGCCTATC
XR_939696.1:n.1371-2969_1371-2958delinsTGAGGGCCTATC
XM_005264439.4:c.709-2969_709-2958delinsTGAGGGCCTATC	XP_005264496.1:n.709-2969_709-2958delinsTGAGGGCCTATC
XM_011532998.3:c.709-2969_709-2958delinsTGAGGGCCTATC	XP_011531300.1:n.709-2969_709-2958delinsTGAGGGCCTATC
XM_011532999.2:c.1066-2969_1066-2958delinsTGAGGGCCTATC	XP_011531301.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_011533000.3:c.286-2969_286-2958delinsTGAGGGCCTATC	XP_011531302.1:n.286-2969_286-2958delinsTGAGGGCCTATC
XM_017004524.1:c.1066-2969_1066-2958delinsTGAGGGCCTATC	XP_016860013.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_017004525.1:c.898-2969_898-2958delinsTGAGGGCCTATC	XP_016860014.1:n.898-2969_898-2958delinsTGAGGGCCTATC
XM_017004526.1:c.1066-2969_1066-2958delinsTGAGGGCCTATC	XP_016860015.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_017004529.1:c.1066-2969_1066-2958delinsTGAGGGCCTATC	XP_016860018.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
XM_024453013.1:c.31-2969_31-2958delinsTGAGGGCCTATC	XP_024308781.1:n.31-2969_31-2958delinsTGAGGGCCTATC
XR_001738853.2:n.1378-2969_1378-2958delinsTGAGGGCCTATC
XR_001738854.1:n.1377-2969_1377-2958delinsTGAGGGCCTATC
NM_020458.4:c.1066-2969_1066-2958delinsTGAGGGCCTATC MANE Select	NP_065191.2:n.1066-2969_1066-2958delinsTGAGGGCCTATC
NM_001288951.2:c.1066-2969_1066-2958delinsTGAGGGCCTATC	NP_001275880.1:n.1066-2969_1066-2958delinsTGAGGGCCTATC
NM_001288953.2:c.964-2969_964-2958delinsTGAGGGCCTATC	NP_001275882.1:n.964-2969_964-2958delinsTGAGGGCCTATC
NM_001288955.2:c.4-2969_4-2958delinsTGAGGGCCTATC	NP_001275884.1:n.4-2969_4-2958delinsTGAGGGCCTATC