Canonical Allele Identifier: CA2201615322

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362700_1362701delinsTC , CM000678.2:g.1362700_1362701delinsTC	GRCh38
NC_000016.9:g.1412701_1412702delinsTC , CM000678.1:g.1412701_1412702delinsTC	GRCh37
NC_000016.8:g.1352702_1352703delinsTC	NCBI36
NG_016985.1:g.15802_15803delinsTC
NG_033129.1:g.57004_57005delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.798_799delinsTC
ENST00000529110.2:c.783_784delinsTC	ENSP00000435349.2:p.Gly261=
ENST00000529957.6:n.757_758delinsTC
ENST00000683366.1:c.*431_*432delinsTC	ENSP00000507283.1:n.*431_*432delinsTC
ENST00000683887.1:c.747_748delinsTC	ENSP00000506886.1:p.Gly249=
ENST00000684100.1:n.693_694delinsTC
ENST00000684126.1:n.833_834delinsTC
ENST00000684688.1:n.1324_1325delinsTC
ENST00000204679.9:c.699_700delinsTC MANE Select	ENSP00000204679.4:p.Gly233=
ENST00000204679.8:c.699_700delinsTC	ENSP00000204679.4:p.Gly233=
ENST00000527076.1:n.1922_1923delinsTC
ENST00000527168.5:n.866_867delinsTC
ENST00000529957.5:n.798_799delinsTC
NM_032520.4:c.699_700delinsTC	NP_115909.1:p.Gly233=
XM_017023782.1:c.747_748delinsTC	XP_016879271.1:p.Gly249=
XM_017023783.1:c.339_340delinsTC	XP_016879272.1:p.Gly113=
NM_032520.5:c.699_700delinsTC MANE Select	NP_115909.1:p.Gly233=