Canonical Allele Identifier: CA2547240818

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002535_47002536insTTAAA , CM000664.2:g.47002535_47002536insTTAAA	GRCh38
NC_000002.11:g.47229674_47229675insTTAAA , CM000664.1:g.47229674_47229675insTTAAA	GRCh37
NC_000002.10:g.47083178_47083179insTTAAA	NCBI36
NG_034143.1:g.91407_91408insTTAAA
NG_034143.2:g.91407_91408insTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3387_2899-3386insTTAAA
ENST00000319190.11:c.1066-3387_1066-3386insTTAAA MANE Select	ENSP00000316699.5:n.1066-3387_1066-3386insTTAAA
ENST00000319190.9:c.1066-3387_1066-3386insTTAAA	ENSP00000316699.5:n.1066-3387_1066-3386insTTAAA
ENST00000394850.6:c.1066-3387_1066-3386insTTAAA	ENSP00000378320.2:n.1066-3387_1066-3386insTTAAA
ENST00000409245.5:c.964-3387_964-3386insTTAAA	ENSP00000386307.1:n.964-3387_964-3386insTTAAA
ENST00000409825.5:c.1014-3387_1014-3386insTTAAA
ENST00000441914.5:c.907-3387_907-3386insTTAAA
ENST00000461601.5:n.1391-3387_1391-3386insTTAAA
ENST00000474321.6:n.550-3387_550-3386insTTAAA
ENST00000484061.5:n.349-3387_349-3386insTTAAA
ENST00000491786.5:n.470-3387_470-3386insTTAAA
NM_001288951.1:c.1066-3387_1066-3386insTTAAA	NP_001275880.1:n.1066-3387_1066-3386insTTAAA
NM_001288953.1:c.964-3387_964-3386insTTAAA	NP_001275882.1:n.964-3387_964-3386insTTAAA
NM_001288955.1:c.4-3387_4-3386insTTAAA	NP_001275884.1:n.4-3387_4-3386insTTAAA
NM_020458.3:c.1066-3387_1066-3386insTTAAA	NP_065191.2:n.1066-3387_1066-3386insTTAAA
XM_005264439.2:c.709-3387_709-3386insTTAAA	XP_005264496.1:n.709-3387_709-3386insTTAAA
XM_011532998.1:c.709-3387_709-3386insTTAAA	XP_011531300.1:n.709-3387_709-3386insTTAAA
XM_011532999.1:c.1066-3387_1066-3386insTTAAA	XP_011531301.1:n.1066-3387_1066-3386insTTAAA
XM_011533000.1:c.286-3387_286-3386insTTAAA	XP_011531302.1:n.286-3387_286-3386insTTAAA
XR_939696.1:n.1371-3387_1371-3386insTTAAA
XM_005264439.4:c.709-3387_709-3386insTTAAA	XP_005264496.1:n.709-3387_709-3386insTTAAA
XM_011532998.3:c.709-3387_709-3386insTTAAA	XP_011531300.1:n.709-3387_709-3386insTTAAA
XM_011532999.2:c.1066-3387_1066-3386insTTAAA	XP_011531301.1:n.1066-3387_1066-3386insTTAAA
XM_011533000.3:c.286-3387_286-3386insTTAAA	XP_011531302.1:n.286-3387_286-3386insTTAAA
XM_017004524.1:c.1066-3387_1066-3386insTTAAA	XP_016860013.1:n.1066-3387_1066-3386insTTAAA
XM_017004525.1:c.898-3387_898-3386insTTAAA	XP_016860014.1:n.898-3387_898-3386insTTAAA
XM_017004526.1:c.1066-3387_1066-3386insTTAAA	XP_016860015.1:n.1066-3387_1066-3386insTTAAA
XM_017004529.1:c.1066-3387_1066-3386insTTAAA	XP_016860018.1:n.1066-3387_1066-3386insTTAAA
XM_024453013.1:c.31-3387_31-3386insTTAAA	XP_024308781.1:n.31-3387_31-3386insTTAAA
XR_001738853.2:n.1378-3387_1378-3386insTTAAA
XR_001738854.1:n.1377-3387_1377-3386insTTAAA
NM_020458.4:c.1066-3387_1066-3386insTTAAA MANE Select	NP_065191.2:n.1066-3387_1066-3386insTTAAA
NM_001288951.2:c.1066-3387_1066-3386insTTAAA	NP_001275880.1:n.1066-3387_1066-3386insTTAAA
NM_001288953.2:c.964-3387_964-3386insTTAAA	NP_001275882.1:n.964-3387_964-3386insTTAAA
NM_001288955.2:c.4-3387_4-3386insTTAAA	NP_001275884.1:n.4-3387_4-3386insTTAAA