Canonical Allele Identifier: CA2739269830

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2851991
• ClinVar RCV Id: RCV003693377

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362633_1362640dup , CM000678.2:g.1362633_1362640dup	GRCh38
NC_000016.9:g.1412634_1412641dup , CM000678.1:g.1412634_1412641dup	GRCh37
NC_000016.8:g.1352635_1352642dup	NCBI36
NG_016985.1:g.15735_15742dup
NG_033129.1:g.57065_57072dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.731_738dup
ENST00000529110.2:c.716_723dup	ENSP00000435349.2:p.Glu242HisfsTer9
ENST00000529957.6:n.690_697dup
ENST00000683366.1:c.*364_*371dup	ENSP00000507283.1:n.*364_*371dup
ENST00000683887.1:c.680_687dup	ENSP00000506886.1:p.Glu230HisfsTer9
ENST00000684100.1:n.626_633dup
ENST00000684126.1:n.766_773dup
ENST00000684688.1:n.1257_1264dup
ENST00000204679.9:c.632_639dup MANE Select	ENSP00000204679.4:p.Glu214HisfsTer9
ENST00000204679.8:c.632_639dup	ENSP00000204679.4:p.Glu214HisfsTer9
ENST00000527076.1:n.1855_1862dup
ENST00000527168.5:n.799_806dup
ENST00000529957.5:n.731_738dup
NM_032520.4:c.632_639dup	NP_115909.1:p.Glu214HisfsTer9
XM_017023782.1:c.680_687dup	XP_016879271.1:p.Glu230HisfsTer9
XM_017023783.1:c.272_279dup	XP_016879272.1:p.Glu94HisfsTer9
NM_032520.5:c.632_639dup MANE Select	NP_115909.1:p.Glu214HisfsTer9