Canonical Allele Identifier: CA2573332333

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362294dup , CM000678.2:g.1362294dup	GRCh38
NC_000016.9:g.1412295dup , CM000678.1:g.1412295dup	GRCh37
NC_000016.8:g.1352296dup	NCBI36
NG_016985.1:g.15396dup
NG_033129.1:g.57411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.599dup
ENST00000529110.2:c.584dup	ENSP00000435349.2:p.Val196ArgfsTer?
ENST00000529957.6:n.558dup
ENST00000683366.1:c.*232dup	ENSP00000507283.1:n.*232dup
ENST00000683887.1:c.548dup	ENSP00000506886.1:p.Val184ArgfsTer?
ENST00000684100.1:n.494dup
ENST00000684126.1:n.558dup
ENST00000684688.1:n.1125dup
ENST00000204679.9:c.500dup MANE Select	ENSP00000204679.4:p.Val168ArgfsTer?
ENST00000204679.8:c.500dup	ENSP00000204679.4:p.Val168ArgfsTer?
ENST00000527076.1:n.1516dup
ENST00000527168.5:n.536dup
ENST00000529957.5:n.599dup
NM_032520.4:c.500dup	NP_115909.1:p.Val168ArgfsTer?
XM_017023782.1:c.548dup	XP_016879271.1:p.Val184ArgfsTer?
XM_017023783.1:c.140dup	XP_016879272.1:p.Val48ArgfsTer?
NM_032520.5:c.500dup MANE Select	NP_115909.1:p.Val168ArgfsTer?