Canonical Allele Identifier: CA2573151745

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1670082
• ClinVar RCV Id: RCV002201261
• dbSNP Id: rs2141865725

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362911_1362914dup , CM000678.2:g.1362911_1362914dup	GRCh38
NC_000016.9:g.1412912_1412915dup , CM000678.1:g.1412912_1412915dup	GRCh37
NC_000016.8:g.1352913_1352916dup	NCBI36
NG_016985.1:g.16013_16016dup
NG_033129.1:g.56792_56795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+5_922+8dup
ENST00000529110.2:c.907+5_907+8dup	ENSP00000435349.2:n.907+5_907+8dup
ENST00000529957.6:n.881+5_881+8dup
ENST00000683366.1:c.*555+5_*555+8dup	ENSP00000507283.1:n.*555+5_*555+8dup
ENST00000683887.1:c.871+5_871+8dup	ENSP00000506886.1:n.871+5_871+8dup
ENST00000684100.1:n.817+5_817+8dup
ENST00000684126.1:n.957+5_957+8dup
ENST00000684688.1:n.1448+5_1448+8dup
ENST00000204679.9:c.823+5_823+8dup MANE Select	ENSP00000204679.4:n.823+5_823+8dup
ENST00000204679.8:c.823+5_823+8dup	ENSP00000204679.4:n.823+5_823+8dup
ENST00000527076.1:n.2046+5_2046+8dup
ENST00000527168.5:n.990+5_990+8dup
NM_032520.4:c.823+5_823+8dup	NP_115909.1:n.823+5_823+8dup
XM_017023782.1:c.871+5_871+8dup	XP_016879271.1:n.871+5_871+8dup
XM_017023783.1:c.463+5_463+8dup	XP_016879272.1:n.463+5_463+8dup
NM_032520.5:c.823+5_823+8dup MANE Select	NP_115909.1:n.823+5_823+8dup