Canonical Allele Identifier: CA2201615021

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362291_1362294delinsCCCT , CM000678.2:g.1362291_1362294delinsCCCT	GRCh38
NC_000016.9:g.1412292_1412295delinsCCCT , CM000678.1:g.1412292_1412295delinsCCCT	GRCh37
NC_000016.8:g.1352293_1352296delinsCCCT	NCBI36
NG_016985.1:g.15393_15396delinsCCCT
NG_033129.1:g.57411_57414delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.596_599delinsCCCT
ENST00000529110.2:c.581_584delinsCCCT	ENSP00000435349.2:p.Pro194=
ENST00000529957.6:n.555_558delinsCCCT
ENST00000683366.1:c.*229_*232delinsCCCT	ENSP00000507283.1:n.*229_*232delinsCCCT
ENST00000683887.1:c.545_548delinsCCCT	ENSP00000506886.1:p.Pro182=
ENST00000684100.1:n.491_494delinsCCCT
ENST00000684126.1:n.555_558delinsCCCT
ENST00000684688.1:n.1122_1125delinsCCCT
ENST00000204679.9:c.497_500delinsCCCT MANE Select	ENSP00000204679.4:p.Pro166=
ENST00000204679.8:c.497_500delinsCCCT	ENSP00000204679.4:p.Pro166=
ENST00000527076.1:n.1513_1516delinsCCCT
ENST00000527168.5:n.533_536delinsCCCT
ENST00000529957.5:n.596_599delinsCCCT
NM_032520.4:c.497_500delinsCCCT	NP_115909.1:p.Pro166=
XM_017023782.1:c.545_548delinsCCCT	XP_016879271.1:p.Pro182=
XM_017023783.1:c.137_140delinsCCCT	XP_016879272.1:p.Pro46=
NM_032520.5:c.497_500delinsCCCT MANE Select	NP_115909.1:p.Pro166=