Canonical Allele Identifier: CA2580090418

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2089297
• ClinVar RCV Id: RCV003005480

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362831_1362837dup , CM000678.2:g.1362831_1362837dup	GRCh38
NC_000016.9:g.1412832_1412838dup , CM000678.1:g.1412832_1412838dup	GRCh37
NC_000016.8:g.1352833_1352839dup	NCBI36
NG_016985.1:g.15933_15939dup
NG_033129.1:g.56868_56874dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.847_853dup
ENST00000529110.2:c.832_838dup	ENSP00000435349.2:p.Leu280GlnfsTer?
ENST00000529957.6:n.806_812dup
ENST00000683366.1:c.*480_*486dup	ENSP00000507283.1:n.*480_*486dup
ENST00000683887.1:c.796_802dup	ENSP00000506886.1:p.Leu268GlnfsTer?
ENST00000684100.1:n.742_748dup
ENST00000684126.1:n.882_888dup
ENST00000684688.1:n.1373_1379dup
ENST00000204679.9:c.748_754dup MANE Select	ENSP00000204679.4:p.Leu252GlnfsTer?
ENST00000204679.8:c.748_754dup	ENSP00000204679.4:p.Leu252GlnfsTer?
ENST00000527076.1:n.1971_1977dup
ENST00000527168.5:n.915_921dup
ENST00000529957.5:n.847_853dup
NM_032520.4:c.748_754dup	NP_115909.1:p.Leu252GlnfsTer?
XM_017023782.1:c.796_802dup	XP_016879271.1:p.Leu268GlnfsTer?
XM_017023783.1:c.388_394dup	XP_016879272.1:p.Leu132GlnfsTer?
NM_032520.5:c.748_754dup MANE Select	NP_115909.1:p.Leu252GlnfsTer?