Canonical Allele Identifier: CA2201615433

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362851_1362852delinsCA , CM000678.2:g.1362851_1362852delinsCA	GRCh38
NC_000016.9:g.1412852_1412853delinsCA , CM000678.1:g.1412852_1412853delinsCA	GRCh37
NC_000016.8:g.1352853_1352854delinsCA	NCBI36
NG_016985.1:g.15953_15954delinsCA
NG_033129.1:g.56853_56854delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.867_868delinsCA
ENST00000529110.2:c.852_853delinsCA	ENSP00000435349.2:p.Ile284=
ENST00000529957.6:n.826_827delinsCA
ENST00000683366.1:c.*500_*501delinsCA	ENSP00000507283.1:n.*500_*501delinsCA
ENST00000683887.1:c.816_817delinsCA	ENSP00000506886.1:p.Ile272=
ENST00000684100.1:n.762_763delinsCA
ENST00000684126.1:n.902_903delinsCA
ENST00000684688.1:n.1393_1394delinsCA
ENST00000204679.9:c.768_769delinsCA MANE Select	ENSP00000204679.4:p.Ile256=
ENST00000204679.8:c.768_769delinsCA	ENSP00000204679.4:p.Ile256=
ENST00000527076.1:n.1991_1992delinsCA
ENST00000527168.5:n.935_936delinsCA
ENST00000529957.5:n.867_868delinsCA
NM_032520.4:c.768_769delinsCA	NP_115909.1:p.Ile256=
XM_017023782.1:c.816_817delinsCA	XP_016879271.1:p.Ile272=
XM_017023783.1:c.408_409delinsCA	XP_016879272.1:p.Ile136=
NM_032520.5:c.768_769delinsCA MANE Select	NP_115909.1:p.Ile256=