Canonical Allele Identifier: CA1030237041

Gene: TTC7A

Linked Data

• gnomAD v3: 2-47002519-G-GGGT
• gnomAD v4: 2-47002519-G-GGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002520_47002521insGTG , CM000664.2:g.47002520_47002521insGTG	GRCh38
NC_000002.11:g.47229659_47229660insGTG , CM000664.1:g.47229659_47229660insGTG	GRCh37
NC_000002.10:g.47083163_47083164insGTG	NCBI36
NG_034143.1:g.91392_91393insGTG
NG_034143.2:g.91392_91393insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3402_2899-3401insGTG
ENST00000319190.11:c.1066-3402_1066-3401insGTG MANE Select	ENSP00000316699.5:n.1066-3402_1066-3401insGTG
ENST00000319190.9:c.1066-3402_1066-3401insGTG	ENSP00000316699.5:n.1066-3402_1066-3401insGTG
ENST00000394850.6:c.1066-3402_1066-3401insGTG	ENSP00000378320.2:n.1066-3402_1066-3401insGTG
ENST00000409245.5:c.964-3402_964-3401insGTG	ENSP00000386307.1:n.964-3402_964-3401insGTG
ENST00000409825.5:c.1014-3402_1014-3401insGTG
ENST00000441914.5:c.907-3402_907-3401insGTG
ENST00000461601.5:n.1391-3402_1391-3401insGTG
ENST00000474321.6:n.550-3402_550-3401insGTG
ENST00000484061.5:n.349-3402_349-3401insGTG
ENST00000491786.5:n.470-3402_470-3401insGTG
NM_001288951.1:c.1066-3402_1066-3401insGTG	NP_001275880.1:n.1066-3402_1066-3401insGTG
NM_001288953.1:c.964-3402_964-3401insGTG	NP_001275882.1:n.964-3402_964-3401insGTG
NM_001288955.1:c.4-3402_4-3401insGTG	NP_001275884.1:n.4-3402_4-3401insGTG
NM_020458.3:c.1066-3402_1066-3401insGTG	NP_065191.2:n.1066-3402_1066-3401insGTG
XM_005264439.2:c.709-3402_709-3401insGTG	XP_005264496.1:n.709-3402_709-3401insGTG
XM_011532998.1:c.709-3402_709-3401insGTG	XP_011531300.1:n.709-3402_709-3401insGTG
XM_011532999.1:c.1066-3402_1066-3401insGTG	XP_011531301.1:n.1066-3402_1066-3401insGTG
XM_011533000.1:c.286-3402_286-3401insGTG	XP_011531302.1:n.286-3402_286-3401insGTG
XR_939696.1:n.1371-3402_1371-3401insGTG
XM_005264439.4:c.709-3402_709-3401insGTG	XP_005264496.1:n.709-3402_709-3401insGTG
XM_011532998.3:c.709-3402_709-3401insGTG	XP_011531300.1:n.709-3402_709-3401insGTG
XM_011532999.2:c.1066-3402_1066-3401insGTG	XP_011531301.1:n.1066-3402_1066-3401insGTG
XM_011533000.3:c.286-3402_286-3401insGTG	XP_011531302.1:n.286-3402_286-3401insGTG
XM_017004524.1:c.1066-3402_1066-3401insGTG	XP_016860013.1:n.1066-3402_1066-3401insGTG
XM_017004525.1:c.898-3402_898-3401insGTG	XP_016860014.1:n.898-3402_898-3401insGTG
XM_017004526.1:c.1066-3402_1066-3401insGTG	XP_016860015.1:n.1066-3402_1066-3401insGTG
XM_017004529.1:c.1066-3402_1066-3401insGTG	XP_016860018.1:n.1066-3402_1066-3401insGTG
XM_024453013.1:c.31-3402_31-3401insGTG	XP_024308781.1:n.31-3402_31-3401insGTG
XR_001738853.2:n.1378-3402_1378-3401insGTG
XR_001738854.1:n.1377-3402_1377-3401insGTG
NM_020458.4:c.1066-3402_1066-3401insGTG MANE Select	NP_065191.2:n.1066-3402_1066-3401insGTG
NM_001288951.2:c.1066-3402_1066-3401insGTG	NP_001275880.1:n.1066-3402_1066-3401insGTG
NM_001288953.2:c.964-3402_964-3401insGTG	NP_001275882.1:n.964-3402_964-3401insGTG
NM_001288955.2:c.4-3402_4-3401insGTG	NP_001275884.1:n.4-3402_4-3401insGTG