Canonical Allele Identifier: CA2580090419

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1897443
• ClinVar RCV Id: RCV002572359

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362835_1362845dup , CM000678.2:g.1362835_1362845dup	GRCh38
NC_000016.9:g.1412836_1412846dup , CM000678.1:g.1412836_1412846dup	GRCh37
NC_000016.8:g.1352837_1352847dup	NCBI36
NG_016985.1:g.15937_15947dup
NG_033129.1:g.56864_56874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.851_861dup
ENST00000529110.2:c.836_846dup	ENSP00000435349.2:p.Glu283AsnfsTer9
ENST00000529957.6:n.810_820dup
ENST00000683366.1:c.*484_*494dup	ENSP00000507283.1:n.*484_*494dup
ENST00000683887.1:c.800_810dup	ENSP00000506886.1:p.Glu271AsnfsTer9
ENST00000684100.1:n.746_756dup
ENST00000684126.1:n.886_896dup
ENST00000684688.1:n.1377_1387dup
ENST00000204679.9:c.752_762dup MANE Select	ENSP00000204679.4:p.Glu255AsnfsTer9
ENST00000204679.8:c.752_762dup	ENSP00000204679.4:p.Glu255AsnfsTer9
ENST00000527076.1:n.1975_1985dup
ENST00000527168.5:n.919_929dup
ENST00000529957.5:n.851_861dup
NM_032520.4:c.752_762dup	NP_115909.1:p.Glu255AsnfsTer9
XM_017023782.1:c.800_810dup	XP_016879271.1:p.Glu271AsnfsTer9
XM_017023783.1:c.392_402dup	XP_016879272.1:p.Glu135AsnfsTer9
NM_032520.5:c.752_762dup MANE Select	NP_115909.1:p.Glu255AsnfsTer9