Canonical Allele Identifier: CA2495604153

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002331_47002333delinsCAT , CM000664.2:g.47002331_47002333delinsCAT	GRCh38
NC_000002.11:g.47229470_47229472delinsCAT , CM000664.1:g.47229470_47229472delinsCAT	GRCh37
NC_000002.10:g.47082974_47082976delinsCAT	NCBI36
NG_034143.1:g.91203_91205delinsCAT
NG_034143.2:g.91203_91205delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3591_2899-3589delinsCAT
ENST00000319190.11:c.1066-3591_1066-3589delinsCAT MANE Select	ENSP00000316699.5:n.1066-3591_1066-3589delinsCAT
ENST00000319190.9:c.1066-3591_1066-3589delinsCAT	ENSP00000316699.5:n.1066-3591_1066-3589delinsCAT
ENST00000394850.6:c.1066-3591_1066-3589delinsCAT	ENSP00000378320.2:n.1066-3591_1066-3589delinsCAT
ENST00000409245.5:c.964-3591_964-3589delinsCAT	ENSP00000386307.1:n.964-3591_964-3589delinsCAT
ENST00000409825.5:c.1014-3591_1014-3589delinsCAT
ENST00000441914.5:c.907-3591_907-3589delinsCAT
ENST00000461601.5:n.1391-3591_1391-3589delinsCAT
ENST00000474321.6:n.550-3591_550-3589delinsCAT
ENST00000484061.5:n.349-3591_349-3589delinsCAT
ENST00000491786.5:n.470-3591_470-3589delinsCAT
NM_001288951.1:c.1066-3591_1066-3589delinsCAT	NP_001275880.1:n.1066-3591_1066-3589delinsCAT
NM_001288953.1:c.964-3591_964-3589delinsCAT	NP_001275882.1:n.964-3591_964-3589delinsCAT
NM_001288955.1:c.4-3591_4-3589delinsCAT	NP_001275884.1:n.4-3591_4-3589delinsCAT
NM_020458.3:c.1066-3591_1066-3589delinsCAT	NP_065191.2:n.1066-3591_1066-3589delinsCAT
XM_005264439.2:c.709-3591_709-3589delinsCAT	XP_005264496.1:n.709-3591_709-3589delinsCAT
XM_011532998.1:c.709-3591_709-3589delinsCAT	XP_011531300.1:n.709-3591_709-3589delinsCAT
XM_011532999.1:c.1066-3591_1066-3589delinsCAT	XP_011531301.1:n.1066-3591_1066-3589delinsCAT
XM_011533000.1:c.286-3591_286-3589delinsCAT	XP_011531302.1:n.286-3591_286-3589delinsCAT
XR_939696.1:n.1371-3591_1371-3589delinsCAT
XM_005264439.4:c.709-3591_709-3589delinsCAT	XP_005264496.1:n.709-3591_709-3589delinsCAT
XM_011532998.3:c.709-3591_709-3589delinsCAT	XP_011531300.1:n.709-3591_709-3589delinsCAT
XM_011532999.2:c.1066-3591_1066-3589delinsCAT	XP_011531301.1:n.1066-3591_1066-3589delinsCAT
XM_011533000.3:c.286-3591_286-3589delinsCAT	XP_011531302.1:n.286-3591_286-3589delinsCAT
XM_017004524.1:c.1066-3591_1066-3589delinsCAT	XP_016860013.1:n.1066-3591_1066-3589delinsCAT
XM_017004525.1:c.898-3591_898-3589delinsCAT	XP_016860014.1:n.898-3591_898-3589delinsCAT
XM_017004526.1:c.1066-3591_1066-3589delinsCAT	XP_016860015.1:n.1066-3591_1066-3589delinsCAT
XM_017004529.1:c.1066-3591_1066-3589delinsCAT	XP_016860018.1:n.1066-3591_1066-3589delinsCAT
XM_024453013.1:c.30+3452_30+3454delinsCAT	XP_024308781.1:n.30+3452_30+3454delinsCAT
XR_001738853.2:n.1378-3591_1378-3589delinsCAT
XR_001738854.1:n.1377-3591_1377-3589delinsCAT
NM_020458.4:c.1066-3591_1066-3589delinsCAT MANE Select	NP_065191.2:n.1066-3591_1066-3589delinsCAT
NM_001288951.2:c.1066-3591_1066-3589delinsCAT	NP_001275880.1:n.1066-3591_1066-3589delinsCAT
NM_001288953.2:c.964-3591_964-3589delinsCAT	NP_001275882.1:n.964-3591_964-3589delinsCAT
NM_001288955.2:c.4-3591_4-3589delinsCAT	NP_001275884.1:n.4-3591_4-3589delinsCAT