Canonical Allele Identifier: CA2201615293

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362652_1362656delinsCTACT , CM000678.2:g.1362652_1362656delinsCTACT	GRCh38
NC_000016.9:g.1412653_1412657delinsCTACT , CM000678.1:g.1412653_1412657delinsCTACT	GRCh37
NC_000016.8:g.1352654_1352658delinsCTACT	NCBI36
NG_016985.1:g.15754_15758delinsCTACT
NG_033129.1:g.57049_57053delinsAGTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.750_754delinsCTACT
ENST00000529110.2:c.735_739delinsCTACT	ENSP00000435349.2:p.Gly245=
ENST00000529957.6:n.709_713delinsCTACT
ENST00000683366.1:c.*383_*387delinsCTACT	ENSP00000507283.1:n.*383_*387delinsCTACT
ENST00000683887.1:c.699_703delinsCTACT	ENSP00000506886.1:p.Gly233=
ENST00000684100.1:n.645_649delinsCTACT
ENST00000684126.1:n.785_789delinsCTACT
ENST00000684688.1:n.1276_1280delinsCTACT
ENST00000204679.9:c.651_655delinsCTACT MANE Select	ENSP00000204679.4:p.Gly217=
ENST00000204679.8:c.651_655delinsCTACT	ENSP00000204679.4:p.Gly217=
ENST00000527076.1:n.1874_1878delinsCTACT
ENST00000527168.5:n.818_822delinsCTACT
ENST00000529957.5:n.750_754delinsCTACT
NM_032520.4:c.651_655delinsCTACT	NP_115909.1:p.Gly217=
XM_017023782.1:c.699_703delinsCTACT	XP_016879271.1:p.Gly233=
XM_017023783.1:c.291_295delinsCTACT	XP_016879272.1:p.Gly97=
NM_032520.5:c.651_655delinsCTACT MANE Select	NP_115909.1:p.Gly217=