Canonical Allele Identifier: CA916082529

Gene: TTC7A STPG4

Linked Data

• ClinVar Variation Id: 853722
• ClinVar RCV Id: RCV001058591
• dbSNP Id: rs1684975294

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073730dup , CM000664.2:g.47073730dup	GRCh38
NC_000002.11:g.47300869dup , CM000664.1:g.47300869dup	GRCh37
NC_000002.10:g.47154373dup	NCBI36
NG_034143.1:g.162602dup
NG_034143.2:g.162602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698500.1:n.4217dup (TTC7A)
ENST00000698503.1:n.2390dup (TTC7A)
ENST00000698504.1:n.465dup (TTC7A)
ENST00000319190.11:c.2384dup (TTC7A) MANE Select	ENSP00000316699.5:p.Ser796GlufsTer9
ENST00000651101.1:n.982dup (TTC7A)
ENST00000651415.1:n.1175dup (TTC7A)
ENST00000652236.1:n.1085dup (TTC7A)
ENST00000652568.1:n.1057dup (TTC7A)
ENST00000319190.9:c.2384dup (TTC7A)	ENSP00000316699.5:p.Ser796GlufsTer9
ENST00000394850.6:c.2456dup (TTC7A)	ENSP00000378320.2:p.Ser820GlufsTer9
ENST00000409245.5:c.2282dup (TTC7A)	ENSP00000386307.1:p.Ser762GlufsTer9
ENST00000409825.5:c.2332dup (TTC7A)
ENST00000422269.1:c.787-7592dup
ENST00000441914.5:c.2225dup (TTC7A)
ENST00000464527.2:n.399-7592dup (STPG4)
ENST00000482548.1:n.402-5173dup (STPG4)
ENST00000484061.5:n.1491dup (TTC7A)
ENST00000491786.5:n.1788dup (TTC7A)
ENST00000496939.1:n.416-26810dup (STPG4)
NM_001288951.1:c.2456dup (TTC7A)	NP_001275880.1:p.Ser820GlufsTer9
NM_001288953.1:c.2282dup (TTC7A)	NP_001275882.1:p.Ser762GlufsTer9
NM_001288955.1:c.1322dup (TTC7A)	NP_001275884.1:p.Ser442GlufsTer9
NM_020458.3:c.2384dup (TTC7A)	NP_065191.2:p.Ser796GlufsTer9
XM_005264439.2:c.2027dup (TTC7A)	XP_005264496.1:p.Ser677GlufsTer9
XM_011532998.1:c.2027dup (TTC7A)	XP_011531300.1:p.Ser677GlufsTer9
XM_011533000.1:c.1604dup (TTC7A)	XP_011531302.1:p.Ser536GlufsTer9
XM_011533001.1:c.1337dup (TTC7A)	XP_011531303.1:p.Ser447GlufsTer9
XM_005264439.4:c.2027dup (TTC7A)	XP_005264496.1:p.Ser677GlufsTer9
XM_011532998.3:c.2027dup (TTC7A)	XP_011531300.1:p.Ser677GlufsTer9
XM_011533000.3:c.1604dup (TTC7A)	XP_011531302.1:p.Ser536GlufsTer9
XM_011533001.3:c.1337dup (TTC7A)	XP_011531303.1:p.Ser447GlufsTer9
XM_017004524.1:c.2267dup (TTC7A)	XP_016860013.1:p.Ser757GlufsTer9
XM_017004525.1:c.2216dup (TTC7A)	XP_016860014.1:p.Ser740GlufsTer9
XM_017004526.1:c.2135dup (TTC7A)	XP_016860015.1:p.Ser713GlufsTer9
XM_024453013.1:c.1349dup (TTC7A)	XP_024308781.1:p.Ser451GlufsTer9
NM_020458.4:c.2384dup (TTC7A) MANE Select	NP_065191.2:p.Ser796GlufsTer9
NM_001288951.2:c.2456dup (TTC7A)	NP_001275880.1:p.Ser820GlufsTer9
NM_001288953.2:c.2282dup (TTC7A)	NP_001275882.1:p.Ser762GlufsTer9
NM_001288955.2:c.1322dup (TTC7A)	NP_001275884.1:p.Ser442GlufsTer9