Canonical Allele Identifier: CA2201615456

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1509995
• ClinVar RCV Id: RCV002011436
• dbSNP Id: rs2034945789

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362889_1362904dup , CM000678.2:g.1362889_1362904dup	GRCh38
NC_000016.9:g.1412890_1412905dup , CM000678.1:g.1412890_1412905dup	GRCh37
NC_000016.8:g.1352891_1352906dup	NCBI36
NG_016985.1:g.15991_16006dup
NG_033129.1:g.56802_56817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.905_920dup
ENST00000529110.2:c.890_905dup	ENSP00000435349.2:p.Glu303LeufsTer29
ENST00000529957.6:n.864_879dup
ENST00000683366.1:c.*538_*553dup	ENSP00000507283.1:n.*538_*553dup
ENST00000683887.1:c.854_869dup	ENSP00000506886.1:p.Glu291LeufsTer29
ENST00000684100.1:n.800_815dup
ENST00000684126.1:n.940_955dup
ENST00000684688.1:n.1431_1446dup
ENST00000204679.9:c.806_821dup MANE Select	ENSP00000204679.4:p.Glu275LeufsTer29
ENST00000204679.8:c.806_821dup	ENSP00000204679.4:p.Glu275LeufsTer29
ENST00000527076.1:n.2029_2044dup
ENST00000527168.5:n.973_988dup
ENST00000529957.5:n.905_920dup
NM_032520.4:c.806_821dup	NP_115909.1:p.Glu275LeufsTer29
XM_017023782.1:c.854_869dup	XP_016879271.1:p.Glu291LeufsTer29
XM_017023783.1:c.446_461dup	XP_016879272.1:p.Glu155LeufsTer29
NM_032520.5:c.806_821dup MANE Select	NP_115909.1:p.Glu275LeufsTer29