Canonical Allele Identifier: CA2201615312

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362683_1362684delinsAC , CM000678.2:g.1362683_1362684delinsAC	GRCh38
NC_000016.9:g.1412684_1412685delinsAC , CM000678.1:g.1412684_1412685delinsAC	GRCh37
NC_000016.8:g.1352685_1352686delinsAC	NCBI36
NG_016985.1:g.15785_15786delinsAC
NG_033129.1:g.57021_57022delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.781_782delinsAC
ENST00000529110.2:c.766_767delinsAC	ENSP00000435349.2:p.Thr256=
ENST00000529957.6:n.740_741delinsAC
ENST00000683366.1:c.*414_*415delinsAC	ENSP00000507283.1:n.*414_*415delinsAC
ENST00000683887.1:c.730_731delinsAC	ENSP00000506886.1:p.Thr244=
ENST00000684100.1:n.676_677delinsAC
ENST00000684126.1:n.816_817delinsAC
ENST00000684688.1:n.1307_1308delinsAC
ENST00000204679.9:c.682_683delinsAC MANE Select	ENSP00000204679.4:p.Thr228=
ENST00000204679.8:c.682_683delinsAC	ENSP00000204679.4:p.Thr228=
ENST00000527076.1:n.1905_1906delinsAC
ENST00000527168.5:n.849_850delinsAC
ENST00000529957.5:n.781_782delinsAC
NM_032520.4:c.682_683delinsAC	NP_115909.1:p.Thr228=
XM_017023782.1:c.730_731delinsAC	XP_016879271.1:p.Thr244=
XM_017023783.1:c.322_323delinsAC	XP_016879272.1:p.Thr108=
NM_032520.5:c.682_683delinsAC MANE Select	NP_115909.1:p.Thr228=