Canonical Allele Identifier: CA2495644210

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074153_47074155delinsGGA , CM000664.2:g.47074153_47074155delinsGGA	GRCh38
NC_000002.11:g.47301292_47301294delinsGGA , CM000664.1:g.47301292_47301294delinsGGA	GRCh37
NC_000002.10:g.47154796_47154798delinsGGA	NCBI36
NG_034143.1:g.163025_163027delinsGGA
NG_034143.2:g.163025_163027delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4640_4642delinsGGA (TTC7A)
ENST00000698503.1:n.2813_2815delinsGGA (TTC7A)
ENST00000319190.11:c.*230_*232delinsGGA (TTC7A) MANE Select	ENSP00000316699.5:n.*230_*232delinsGGA
ENST00000651101.1:n.1405_1407delinsGGA (TTC7A)
ENST00000651415.1:n.1598_1600delinsGGA (TTC7A)
ENST00000652236.1:n.1508_1510delinsGGA (TTC7A)
ENST00000652568.1:n.1480_1482delinsGGA (TTC7A)
ENST00000319190.9:c.*230_*232delinsGGA (TTC7A)	ENSP00000316699.5:n.*230_*232delinsGGA
ENST00000394850.6:c.*230_*232delinsGGA (TTC7A)	ENSP00000378320.2:n.*230_*232delinsGGA
ENST00000409825.5:c.2755_2757delinsGGA (TTC7A)
ENST00000422269.1:c.787-8018_787-8016delinsTCC
ENST00000464527.2:n.399-8018_399-8016delinsTCC (STPG4)
ENST00000482548.1:n.402-5599_402-5597delinsTCC (STPG4)
ENST00000484061.5:n.1914_1916delinsGGA (TTC7A)
ENST00000491786.5:n.2211_2213delinsGGA (TTC7A)
ENST00000496939.1:n.416-27236_416-27234delinsTCC (STPG4)
NM_001288951.1:c.*230_*232delinsGGA (TTC7A)	NP_001275880.1:n.*230_*232delinsGGA
NM_001288953.1:c.*230_*232delinsGGA (TTC7A)	NP_001275882.1:n.*230_*232delinsGGA
NM_001288955.1:c.*230_*232delinsGGA (TTC7A)	NP_001275884.1:n.*230_*232delinsGGA
NM_020458.3:c.*230_*232delinsGGA (TTC7A)	NP_065191.2:n.*230_*232delinsGGA
XM_005264439.2:c.*230_*232delinsGGA (TTC7A)	XP_005264496.1:n.*230_*232delinsGGA
XM_011532998.1:c.*230_*232delinsGGA (TTC7A)	XP_011531300.1:n.*230_*232delinsGGA
XM_011533000.1:c.*230_*232delinsGGA (TTC7A)	XP_011531302.1:n.*230_*232delinsGGA
XM_011533001.1:c.*230_*232delinsGGA (TTC7A)	XP_011531303.1:n.*230_*232delinsGGA
XM_005264439.4:c.*230_*232delinsGGA (TTC7A)	XP_005264496.1:n.*230_*232delinsGGA
XM_011532998.3:c.*230_*232delinsGGA (TTC7A)	XP_011531300.1:n.*230_*232delinsGGA
XM_011533000.3:c.*230_*232delinsGGA (TTC7A)	XP_011531302.1:n.*230_*232delinsGGA
XM_011533001.3:c.*230_*232delinsGGA (TTC7A)	XP_011531303.1:n.*230_*232delinsGGA
XM_017004524.1:c.*230_*232delinsGGA (TTC7A)	XP_016860013.1:n.*230_*232delinsGGA
XM_017004525.1:c.*230_*232delinsGGA (TTC7A)	XP_016860014.1:n.*230_*232delinsGGA
XM_017004526.1:c.*230_*232delinsGGA (TTC7A)	XP_016860015.1:n.*230_*232delinsGGA
XM_024453013.1:c.*230_*232delinsGGA (TTC7A)	XP_024308781.1:n.*230_*232delinsGGA
NM_020458.4:c.*230_*232delinsGGA (TTC7A) MANE Select	NP_065191.2:n.*230_*232delinsGGA
NM_001288951.2:c.*230_*232delinsGGA (TTC7A)	NP_001275880.1:n.*230_*232delinsGGA
NM_001288953.2:c.*230_*232delinsGGA (TTC7A)	NP_001275882.1:n.*230_*232delinsGGA
NM_001288955.2:c.*230_*232delinsGGA (TTC7A)	NP_001275884.1:n.*230_*232delinsGGA