Canonical Allele Identifier: CA2495644202

Gene: TTC7A STPG4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47074147_47074148delinsGC , CM000664.2:g.47074147_47074148delinsGC	GRCh38
NC_000002.11:g.47301286_47301287delinsGC , CM000664.1:g.47301286_47301287delinsGC	GRCh37
NC_000002.10:g.47154790_47154791delinsGC	NCBI36
NG_034143.1:g.163019_163020delinsGC
NG_034143.2:g.163019_163020delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4634_4635delinsGC (TTC7A)
ENST00000698503.1:n.2807_2808delinsGC (TTC7A)
ENST00000319190.11:c.*224_*225delinsGC (TTC7A) MANE Select	ENSP00000316699.5:n.*224_*225delinsGC
ENST00000651101.1:n.1399_1400delinsGC (TTC7A)
ENST00000651415.1:n.1592_1593delinsGC (TTC7A)
ENST00000652236.1:n.1502_1503delinsGC (TTC7A)
ENST00000652568.1:n.1474_1475delinsGC (TTC7A)
ENST00000319190.9:c.*224_*225delinsGC (TTC7A)	ENSP00000316699.5:n.*224_*225delinsGC
ENST00000394850.6:c.*224_*225delinsGC (TTC7A)	ENSP00000378320.2:n.*224_*225delinsGC
ENST00000409825.5:c.2749_2750delinsGC (TTC7A)
ENST00000422269.1:c.787-8011_787-8010delinsGC
ENST00000464527.2:n.399-8011_399-8010delinsGC (STPG4)
ENST00000482548.1:n.402-5592_402-5591delinsGC (STPG4)
ENST00000484061.5:n.1908_1909delinsGC (TTC7A)
ENST00000491786.5:n.2205_2206delinsGC (TTC7A)
ENST00000496939.1:n.416-27229_416-27228delinsGC (STPG4)
NM_001288951.1:c.*224_*225delinsGC (TTC7A)	NP_001275880.1:n.*224_*225delinsGC
NM_001288953.1:c.*224_*225delinsGC (TTC7A)	NP_001275882.1:n.*224_*225delinsGC
NM_001288955.1:c.*224_*225delinsGC (TTC7A)	NP_001275884.1:n.*224_*225delinsGC
NM_020458.3:c.*224_*225delinsGC (TTC7A)	NP_065191.2:n.*224_*225delinsGC
XM_005264439.2:c.*224_*225delinsGC (TTC7A)	XP_005264496.1:n.*224_*225delinsGC
XM_011532998.1:c.*224_*225delinsGC (TTC7A)	XP_011531300.1:n.*224_*225delinsGC
XM_011533000.1:c.*224_*225delinsGC (TTC7A)	XP_011531302.1:n.*224_*225delinsGC
XM_011533001.1:c.*224_*225delinsGC (TTC7A)	XP_011531303.1:n.*224_*225delinsGC
XM_005264439.4:c.*224_*225delinsGC (TTC7A)	XP_005264496.1:n.*224_*225delinsGC
XM_011532998.3:c.*224_*225delinsGC (TTC7A)	XP_011531300.1:n.*224_*225delinsGC
XM_011533000.3:c.*224_*225delinsGC (TTC7A)	XP_011531302.1:n.*224_*225delinsGC
XM_011533001.3:c.*224_*225delinsGC (TTC7A)	XP_011531303.1:n.*224_*225delinsGC
XM_017004524.1:c.*224_*225delinsGC (TTC7A)	XP_016860013.1:n.*224_*225delinsGC
XM_017004525.1:c.*224_*225delinsGC (TTC7A)	XP_016860014.1:n.*224_*225delinsGC
XM_017004526.1:c.*224_*225delinsGC (TTC7A)	XP_016860015.1:n.*224_*225delinsGC
XM_024453013.1:c.*224_*225delinsGC (TTC7A)	XP_024308781.1:n.*224_*225delinsGC
NM_020458.4:c.*224_*225delinsGC (TTC7A) MANE Select	NP_065191.2:n.*224_*225delinsGC
NM_001288951.2:c.*224_*225delinsGC (TTC7A)	NP_001275880.1:n.*224_*225delinsGC
NM_001288953.2:c.*224_*225delinsGC (TTC7A)	NP_001275882.1:n.*224_*225delinsGC
NM_001288955.2:c.*224_*225delinsGC (TTC7A)	NP_001275884.1:n.*224_*225delinsGC