Canonical Allele Identifier: CA2201615440

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362865_1362866delinsGT , CM000678.2:g.1362865_1362866delinsGT	GRCh38
NC_000016.9:g.1412866_1412867delinsGT , CM000678.1:g.1412866_1412867delinsGT	GRCh37
NC_000016.8:g.1352867_1352868delinsGT	NCBI36
NG_016985.1:g.15967_15968delinsGT
NG_033129.1:g.56839_56840delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.881_882delinsGT
ENST00000529110.2:c.866_867delinsGT	ENSP00000435349.2:p.Gly289=
ENST00000529957.6:n.840_841delinsGT
ENST00000683366.1:c.*514_*515delinsGT	ENSP00000507283.1:n.*514_*515delinsGT
ENST00000683887.1:c.830_831delinsGT	ENSP00000506886.1:p.Gly277=
ENST00000684100.1:n.776_777delinsGT
ENST00000684126.1:n.916_917delinsGT
ENST00000684688.1:n.1407_1408delinsGT
ENST00000204679.9:c.782_783delinsGT MANE Select	ENSP00000204679.4:p.Gly261=
ENST00000204679.8:c.782_783delinsGT	ENSP00000204679.4:p.Gly261=
ENST00000527076.1:n.2005_2006delinsGT
ENST00000527168.5:n.949_950delinsGT
ENST00000529957.5:n.881_882delinsGT
NM_032520.4:c.782_783delinsGT	NP_115909.1:p.Gly261=
XM_017023782.1:c.830_831delinsGT	XP_016879271.1:p.Gly277=
XM_017023783.1:c.422_423delinsGT	XP_016879272.1:p.Gly141=
NM_032520.5:c.782_783delinsGT MANE Select	NP_115909.1:p.Gly261=