Canonical Allele Identifier: CA2201615424

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034939648

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362839_1362852dup , CM000678.2:g.1362839_1362852dup	GRCh38
NC_000016.9:g.1412840_1412853dup , CM000678.1:g.1412840_1412853dup	GRCh37
NC_000016.8:g.1352841_1352854dup	NCBI36
NG_016985.1:g.15941_15954dup
NG_033129.1:g.56853_56866dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.855_868dup
ENST00000529110.2:c.840_853dup	ENSP00000435349.2:p.Lys285ThrfsTer8
ENST00000529957.6:n.814_827dup
ENST00000683366.1:c.*488_*501dup	ENSP00000507283.1:n.*488_*501dup
ENST00000683887.1:c.804_817dup	ENSP00000506886.1:p.Lys273ThrfsTer8
ENST00000684100.1:n.750_763dup
ENST00000684126.1:n.890_903dup
ENST00000684688.1:n.1381_1394dup
ENST00000204679.9:c.756_769dup MANE Select	ENSP00000204679.4:p.Lys257ThrfsTer8
ENST00000204679.8:c.756_769dup	ENSP00000204679.4:p.Lys257ThrfsTer8
ENST00000527076.1:n.1979_1992dup
ENST00000527168.5:n.923_936dup
ENST00000529957.5:n.855_868dup
NM_032520.4:c.756_769dup	NP_115909.1:p.Lys257ThrfsTer8
XM_017023782.1:c.804_817dup	XP_016879271.1:p.Lys273ThrfsTer8
XM_017023783.1:c.396_409dup	XP_016879272.1:p.Lys137ThrfsTer8
NM_032520.5:c.756_769dup MANE Select	NP_115909.1:p.Lys257ThrfsTer8