Canonical Allele Identifier: CA2658930982

Gene: TTC7A STPG4

Linked Data

• gnomAD v4: 2-47074166-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074166_47074167insC , CM000664.2:g.47074166_47074167insC	GRCh38
NC_000002.11:g.47301305_47301306insC , CM000664.1:g.47301305_47301306insC	GRCh37
NC_000002.10:g.47154809_47154810insC	NCBI36
NG_034143.1:g.163038_163039insC
NG_034143.2:g.163038_163039insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4653_4654insC (TTC7A)
ENST00000698503.1:n.2826_2827insC (TTC7A)
ENST00000319190.11:c.*243_*244insC (TTC7A) MANE Select	ENSP00000316699.5:n.*243_*244insC
ENST00000651101.1:n.1418_1419insC (TTC7A)
ENST00000651415.1:n.1611_1612insC (TTC7A)
ENST00000652236.1:n.1521_1522insC (TTC7A)
ENST00000652568.1:n.1493_1494insC (TTC7A)
ENST00000319190.9:c.*243_*244insC (TTC7A)	ENSP00000316699.5:n.*243_*244insC
ENST00000394850.6:c.*243_*244insC (TTC7A)	ENSP00000378320.2:n.*243_*244insC
ENST00000409825.5:c.2768_2769insC (TTC7A)
ENST00000422269.1:c.787-8030_787-8029insG
ENST00000464527.2:n.399-8030_399-8029insG (STPG4)
ENST00000482548.1:n.402-5611_402-5610insG (STPG4)
ENST00000484061.5:n.1927_1928insC (TTC7A)
ENST00000491786.5:n.2224_2225insC (TTC7A)
ENST00000496939.1:n.416-27248_416-27247insG (STPG4)
NM_001288951.1:c.*243_*244insC (TTC7A)	NP_001275880.1:n.*243_*244insC
NM_001288953.1:c.*243_*244insC (TTC7A)	NP_001275882.1:n.*243_*244insC
NM_001288955.1:c.*243_*244insC (TTC7A)	NP_001275884.1:n.*243_*244insC
NM_020458.3:c.*243_*244insC (TTC7A)	NP_065191.2:n.*243_*244insC
XM_005264439.2:c.*243_*244insC (TTC7A)	XP_005264496.1:n.*243_*244insC
XM_011532998.1:c.*243_*244insC (TTC7A)	XP_011531300.1:n.*243_*244insC
XM_011533000.1:c.*243_*244insC (TTC7A)	XP_011531302.1:n.*243_*244insC
XM_011533001.1:c.*243_*244insC (TTC7A)	XP_011531303.1:n.*243_*244insC
XM_005264439.4:c.*243_*244insC (TTC7A)	XP_005264496.1:n.*243_*244insC
XM_011532998.3:c.*243_*244insC (TTC7A)	XP_011531300.1:n.*243_*244insC
XM_011533000.3:c.*243_*244insC (TTC7A)	XP_011531302.1:n.*243_*244insC
XM_011533001.3:c.*243_*244insC (TTC7A)	XP_011531303.1:n.*243_*244insC
XM_017004524.1:c.*243_*244insC (TTC7A)	XP_016860013.1:n.*243_*244insC
XM_017004525.1:c.*243_*244insC (TTC7A)	XP_016860014.1:n.*243_*244insC
XM_017004526.1:c.*243_*244insC (TTC7A)	XP_016860015.1:n.*243_*244insC
XM_024453013.1:c.*243_*244insC (TTC7A)	XP_024308781.1:n.*243_*244insC
NM_020458.4:c.*243_*244insC (TTC7A) MANE Select	NP_065191.2:n.*243_*244insC
NM_001288951.2:c.*243_*244insC (TTC7A)	NP_001275880.1:n.*243_*244insC
NM_001288953.2:c.*243_*244insC (TTC7A)	NP_001275882.1:n.*243_*244insC
NM_001288955.2:c.*243_*244insC (TTC7A)	NP_001275884.1:n.*243_*244insC