Canonical Allele Identifier: CA1030236995

Gene: TTC7A

Linked Data

• gnomAD v3: 2-47002508-G-GTCGATTCGTGTAGATCTCGGTGGTC
• gnomAD v4: 2-47002508-G-GTCGATTCGTGTAGATCTCGGTGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47002508_47002509insTCGATTCGTGTAGATCTCGGTGGTC , CM000664.2:g.47002508_47002509insTCGATTCGTGTAGATCTCGGTGGTC	GRCh38
NC_000002.11:g.47229647_47229648insTCGATTCGTGTAGATCTCGGTGGTC , CM000664.1:g.47229647_47229648insTCGATTCGTGTAGATCTCGGTGGTC	GRCh37
NC_000002.10:g.47083151_47083152insTCGATTCGTGTAGATCTCGGTGGTC	NCBI36
NG_034143.1:g.91380_91381insTCGATTCGTGTAGATCTCGGTGGTC
NG_034143.2:g.91380_91381insTCGATTCGTGTAGATCTCGGTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.2899-3414_2899-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000319190.11:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC MANE Select	ENSP00000316699.5:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCG...
ENST00000319190.9:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	ENSP00000316699.5:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCG...
ENST00000394850.6:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	ENSP00000378320.2:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCG...
ENST00000409245.5:c.964-3414_964-3413insTCGATTCGTGTAGATCTCGGTGGTC	ENSP00000386307.1:n.964-3414_964-3413insTCGATTCGTGTAGATCTCGGT...
ENST00000409825.5:c.1014-3414_1014-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000441914.5:c.907-3414_907-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000461601.5:n.1391-3414_1391-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000474321.6:n.550-3414_550-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000484061.5:n.349-3414_349-3413insTCGATTCGTGTAGATCTCGGTGGTC
ENST00000491786.5:n.470-3414_470-3413insTCGATTCGTGTAGATCTCGGTGGTC
NM_001288951.1:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275880.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
NM_001288953.1:c.964-3414_964-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275882.1:n.964-3414_964-3413insTCGATTCGTGTAGATCTCGGTGGT...
NM_001288955.1:c.4-3414_4-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275884.1:n.4-3414_4-3413insTCGATTCGTGTAGATCTCGGTGGTC
NM_020458.3:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_065191.2:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC...
XM_005264439.2:c.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_005264496.1:n.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_011532998.1:c.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531300.1:n.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_011532999.1:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531301.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
XM_011533000.1:c.286-3414_286-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531302.1:n.286-3414_286-3413insTCGATTCGTGTAGATCTCGGTGGT...
XR_939696.1:n.1371-3414_1371-3413insTCGATTCGTGTAGATCTCGGTGGTC
XM_005264439.4:c.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_005264496.1:n.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_011532998.3:c.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531300.1:n.709-3414_709-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_011532999.2:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531301.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
XM_011533000.3:c.286-3414_286-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_011531302.1:n.286-3414_286-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_017004524.1:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_016860013.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
XM_017004525.1:c.898-3414_898-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_016860014.1:n.898-3414_898-3413insTCGATTCGTGTAGATCTCGGTGGT...
XM_017004526.1:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_016860015.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
XM_017004529.1:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_016860018.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
XM_024453013.1:c.31-3414_31-3413insTCGATTCGTGTAGATCTCGGTGGTC	XP_024308781.1:n.31-3414_31-3413insTCGATTCGTGTAGATCTCGGTGGTC
XR_001738853.2:n.1378-3414_1378-3413insTCGATTCGTGTAGATCTCGGTGGTC
XR_001738854.1:n.1377-3414_1377-3413insTCGATTCGTGTAGATCTCGGTGGTC
NM_020458.4:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC MANE Select	NP_065191.2:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC...
NM_001288951.2:c.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275880.1:n.1066-3414_1066-3413insTCGATTCGTGTAGATCTCGGTG...
NM_001288953.2:c.964-3414_964-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275882.1:n.964-3414_964-3413insTCGATTCGTGTAGATCTCGGTGGT...
NM_001288955.2:c.4-3414_4-3413insTCGATTCGTGTAGATCTCGGTGGTC	NP_001275884.1:n.4-3414_4-3413insTCGATTCGTGTAGATCTCGGTGGTC