Canonical Allele Identifier: CA2201615417

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362830_1362834delinsTAAAG , CM000678.2:g.1362830_1362834delinsTAAAG	GRCh38
NC_000016.9:g.1412831_1412835delinsTAAAG , CM000678.1:g.1412831_1412835delinsTAAAG	GRCh37
NC_000016.8:g.1352832_1352836delinsTAAAG	NCBI36
NG_016985.1:g.15932_15936delinsTAAAG
NG_033129.1:g.56871_56875delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.846_850delinsTAAAG
ENST00000529110.2:c.831_835delinsTAAAG	ENSP00000435349.2:p.His277=
ENST00000529957.6:n.805_809delinsTAAAG
ENST00000683366.1:c.*479_*483delinsTAAAG	ENSP00000507283.1:n.*479_*483delinsTAAAG
ENST00000683887.1:c.795_799delinsTAAAG	ENSP00000506886.1:p.His265=
ENST00000684100.1:n.741_745delinsTAAAG
ENST00000684126.1:n.881_885delinsTAAAG
ENST00000684688.1:n.1372_1376delinsTAAAG
ENST00000204679.9:c.747_751delinsTAAAG MANE Select	ENSP00000204679.4:p.His249=
ENST00000204679.8:c.747_751delinsTAAAG	ENSP00000204679.4:p.His249=
ENST00000527076.1:n.1970_1974delinsTAAAG
ENST00000527168.5:n.914_918delinsTAAAG
ENST00000529957.5:n.846_850delinsTAAAG
NM_032520.4:c.747_751delinsTAAAG	NP_115909.1:p.His249=
XM_017023782.1:c.795_799delinsTAAAG	XP_016879271.1:p.His265=
XM_017023783.1:c.387_391delinsTAAAG	XP_016879272.1:p.His129=
NM_032520.5:c.747_751delinsTAAAG MANE Select	NP_115909.1:p.His249=