Canonical Allele Identifier: CA2805551997

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362293_1362294insAG , CM000678.2:g.1362293_1362294insAG	GRCh38
NC_000016.9:g.1412294_1412295insAG , CM000678.1:g.1412294_1412295insAG	GRCh37
NC_000016.8:g.1352295_1352296insAG	NCBI36
NG_016985.1:g.15395_15396insAG
NG_033129.1:g.57411_57412insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.598_599insAG
ENST00000529110.2:c.583_584insAG	ENSP00000435349.2:p.Leu195GlnfsTer10
ENST00000529957.6:n.557_558insAG
ENST00000683366.1:c.*231_*232insAG	ENSP00000507283.1:n.*231_*232insAG
ENST00000683887.1:c.547_548insAG	ENSP00000506886.1:p.Leu183GlnfsTer10
ENST00000684100.1:n.493_494insAG
ENST00000684126.1:n.557_558insAG
ENST00000684688.1:n.1124_1125insAG
ENST00000204679.9:c.499_500insAG MANE Select	ENSP00000204679.4:p.Leu167GlnfsTer10
ENST00000204679.8:c.499_500insAG	ENSP00000204679.4:p.Leu167GlnfsTer10
ENST00000527076.1:n.1515_1516insAG
ENST00000527168.5:n.535_536insAG
ENST00000529957.5:n.598_599insAG
NM_032520.4:c.499_500insAG	NP_115909.1:p.Leu167GlnfsTer10
XM_017023782.1:c.547_548insAG	XP_016879271.1:p.Leu183GlnfsTer10
XM_017023783.1:c.139_140insAG	XP_016879272.1:p.Leu47GlnfsTer10
NM_032520.5:c.499_500insAG MANE Select	NP_115909.1:p.Leu167GlnfsTer10