Canonical Allele Identifier: CA2580090544

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2044539
• ClinVar RCV Id: RCV002903763

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362325_1362329dup , CM000678.2:g.1362325_1362329dup	GRCh38
NC_000016.9:g.1412326_1412330dup , CM000678.1:g.1412326_1412330dup	GRCh37
NC_000016.8:g.1352327_1352331dup	NCBI36
NG_016985.1:g.15427_15431dup
NG_033129.1:g.57377_57381dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+5_625+9dup
ENST00000529110.2:c.610+5_610+9dup	ENSP00000435349.2:n.610+5_610+9dup
ENST00000529957.6:n.584+5_584+9dup
ENST00000683366.1:c.*258+5_*258+9dup	ENSP00000507283.1:n.*258+5_*258+9dup
ENST00000683887.1:c.574+5_574+9dup	ENSP00000506886.1:n.574+5_574+9dup
ENST00000684100.1:n.520+5_520+9dup
ENST00000684126.1:n.584+5_584+9dup
ENST00000684688.1:n.1151+5_1151+9dup
ENST00000204679.9:c.526+5_526+9dup MANE Select	ENSP00000204679.4:n.526+5_526+9dup
ENST00000204679.8:c.526+5_526+9dup	ENSP00000204679.4:n.526+5_526+9dup
ENST00000527076.1:n.1547_1551dup
ENST00000527168.5:n.567_571dup
ENST00000529957.5:n.625+5_625+9dup
NM_032520.4:c.526+5_526+9dup	NP_115909.1:n.526+5_526+9dup
XM_017023782.1:c.574+5_574+9dup	XP_016879271.1:n.574+5_574+9dup
XM_017023783.1:c.166+5_166+9dup	XP_016879272.1:n.166+5_166+9dup
NM_032520.5:c.526+5_526+9dup MANE Select	NP_115909.1:n.526+5_526+9dup