Canonical Allele Identifier: CA718229983

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2008064
• ClinVar RCV Id: RCV002833586
• dbSNP Id: rs1376540576
• MyVariant Identifiers: chr16:g.1412887_1412888insC (hg19) ; chr16:g.1362886_1362887insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362890dup , CM000678.2:g.1362890dup	GRCh38
NC_000016.9:g.1412891dup , CM000678.1:g.1412891dup	GRCh37
NC_000016.8:g.1352892dup	NCBI36
NG_016985.1:g.15992dup
NG_033129.1:g.56818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.906dup
ENST00000529110.2:c.891dup	ENSP00000435349.2:p.Tyr298LeufsTer29
ENST00000529957.6:n.865dup
ENST00000683366.1:c.*539dup	ENSP00000507283.1:n.*539dup
ENST00000683887.1:c.855dup	ENSP00000506886.1:p.Tyr286LeufsTer29
ENST00000684100.1:n.801dup
ENST00000684126.1:n.941dup
ENST00000684688.1:n.1432dup
ENST00000204679.9:c.807dup MANE Select	ENSP00000204679.4:p.Tyr270LeufsTer29
ENST00000204679.8:c.807dup	ENSP00000204679.4:p.Tyr270LeufsTer29
ENST00000527076.1:n.2030dup
ENST00000527168.5:n.974dup
ENST00000529957.5:n.906dup
NM_032520.4:c.807dup	NP_115909.1:p.Tyr270LeufsTer29
XM_017023782.1:c.855dup	XP_016879271.1:p.Tyr286LeufsTer29
XM_017023783.1:c.447dup	XP_016879272.1:p.Tyr150LeufsTer29
NM_032520.5:c.807dup MANE Select	NP_115909.1:p.Tyr270LeufsTer29