Canonical Allele Identifier: CA1030237002

Gene: TTC7A

Linked Data

• gnomAD v3: 2-47002510-C-CCGTATCATTAAAAAACCA
• gnomAD v4: 2-47002510-C-CCGTATCATTAAAAAACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002510_47002511insCGTATCATTAAAAAACCA , CM000664.2:g.47002510_47002511insCGTATCATTAAAAAACCA	GRCh38
NC_000002.11:g.47229649_47229650insCGTATCATTAAAAAACCA , CM000664.1:g.47229649_47229650insCGTATCATTAAAAAACCA	GRCh37
NC_000002.10:g.47083153_47083154insCGTATCATTAAAAAACCA	NCBI36
NG_034143.1:g.91382_91383insCGTATCATTAAAAAACCA
NG_034143.2:g.91382_91383insCGTATCATTAAAAAACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3412_2899-3411insCGTATCATTAAAAAACCA
ENST00000319190.11:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA MANE Select	ENSP00000316699.5:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
ENST00000319190.9:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	ENSP00000316699.5:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
ENST00000394850.6:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	ENSP00000378320.2:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
ENST00000409245.5:c.964-3412_964-3411insCGTATCATTAAAAAACCA	ENSP00000386307.1:n.964-3412_964-3411insCGTATCATTAAAAAACCA
ENST00000409825.5:c.1014-3412_1014-3411insCGTATCATTAAAAAACCA
ENST00000441914.5:c.907-3412_907-3411insCGTATCATTAAAAAACCA
ENST00000461601.5:n.1391-3412_1391-3411insCGTATCATTAAAAAACCA
ENST00000474321.6:n.550-3412_550-3411insCGTATCATTAAAAAACCA
ENST00000484061.5:n.349-3412_349-3411insCGTATCATTAAAAAACCA
ENST00000491786.5:n.470-3412_470-3411insCGTATCATTAAAAAACCA
NM_001288951.1:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	NP_001275880.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
NM_001288953.1:c.964-3412_964-3411insCGTATCATTAAAAAACCA	NP_001275882.1:n.964-3412_964-3411insCGTATCATTAAAAAACCA
NM_001288955.1:c.4-3412_4-3411insCGTATCATTAAAAAACCA	NP_001275884.1:n.4-3412_4-3411insCGTATCATTAAAAAACCA
NM_020458.3:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	NP_065191.2:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_005264439.2:c.709-3412_709-3411insCGTATCATTAAAAAACCA	XP_005264496.1:n.709-3412_709-3411insCGTATCATTAAAAAACCA
XM_011532998.1:c.709-3412_709-3411insCGTATCATTAAAAAACCA	XP_011531300.1:n.709-3412_709-3411insCGTATCATTAAAAAACCA
XM_011532999.1:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	XP_011531301.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_011533000.1:c.286-3412_286-3411insCGTATCATTAAAAAACCA	XP_011531302.1:n.286-3412_286-3411insCGTATCATTAAAAAACCA
XR_939696.1:n.1371-3412_1371-3411insCGTATCATTAAAAAACCA
XM_005264439.4:c.709-3412_709-3411insCGTATCATTAAAAAACCA	XP_005264496.1:n.709-3412_709-3411insCGTATCATTAAAAAACCA
XM_011532998.3:c.709-3412_709-3411insCGTATCATTAAAAAACCA	XP_011531300.1:n.709-3412_709-3411insCGTATCATTAAAAAACCA
XM_011532999.2:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	XP_011531301.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_011533000.3:c.286-3412_286-3411insCGTATCATTAAAAAACCA	XP_011531302.1:n.286-3412_286-3411insCGTATCATTAAAAAACCA
XM_017004524.1:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	XP_016860013.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_017004525.1:c.898-3412_898-3411insCGTATCATTAAAAAACCA	XP_016860014.1:n.898-3412_898-3411insCGTATCATTAAAAAACCA
XM_017004526.1:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	XP_016860015.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_017004529.1:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	XP_016860018.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
XM_024453013.1:c.31-3412_31-3411insCGTATCATTAAAAAACCA	XP_024308781.1:n.31-3412_31-3411insCGTATCATTAAAAAACCA
XR_001738853.2:n.1378-3412_1378-3411insCGTATCATTAAAAAACCA
XR_001738854.1:n.1377-3412_1377-3411insCGTATCATTAAAAAACCA
NM_020458.4:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA MANE Select	NP_065191.2:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
NM_001288951.2:c.1066-3412_1066-3411insCGTATCATTAAAAAACCA	NP_001275880.1:n.1066-3412_1066-3411insCGTATCATTAAAAAACCA
NM_001288953.2:c.964-3412_964-3411insCGTATCATTAAAAAACCA	NP_001275882.1:n.964-3412_964-3411insCGTATCATTAAAAAACCA
NM_001288955.2:c.4-3412_4-3411insCGTATCATTAAAAAACCA	NP_001275884.1:n.4-3412_4-3411insCGTATCATTAAAAAACCA