Canonical Allele Identifier: CA2630960037

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362293-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362294del , CM000678.2:g.1362294del	GRCh38
NC_000016.9:g.1412295del , CM000678.1:g.1412295del	GRCh37
NC_000016.8:g.1352296del	NCBI36
NG_016985.1:g.15396del
NG_033129.1:g.57411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.599del
ENST00000529110.2:c.584del	ENSP00000435349.2:p.Leu195ProfsTer9
ENST00000529957.6:n.558del
ENST00000683366.1:c.*232del	ENSP00000507283.1:n.*232del
ENST00000683887.1:c.548del	ENSP00000506886.1:p.Leu183ProfsTer9
ENST00000684100.1:n.494del
ENST00000684126.1:n.558del
ENST00000684688.1:n.1125del
ENST00000204679.9:c.500del MANE Select	ENSP00000204679.4:p.Leu167ProfsTer9
ENST00000204679.8:c.500del	ENSP00000204679.4:p.Leu167ProfsTer9
ENST00000527076.1:n.1516del
ENST00000527168.5:n.536del
ENST00000529957.5:n.599del
NM_032520.4:c.500del	NP_115909.1:p.Leu167ProfsTer9
XM_017023782.1:c.548del	XP_016879271.1:p.Leu183ProfsTer9
XM_017023783.1:c.140del	XP_016879272.1:p.Leu47ProfsTer9
NM_032520.5:c.500del MANE Select	NP_115909.1:p.Leu167ProfsTer9