Canonical Allele Identifier: CA2630959617

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362210-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362211del , CM000678.2:g.1362211del	GRCh38
NC_000016.9:g.1412212del , CM000678.1:g.1412212del	GRCh37
NC_000016.8:g.1352213del	NCBI36
NG_016985.1:g.15313del
NG_033129.1:g.57494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.516del
ENST00000529110.2:c.501del	ENSP00000435349.2:p.Glu167AspfsTer23
ENST00000529957.6:n.475del
ENST00000683366.1:c.*149del	ENSP00000507283.1:n.*149del
ENST00000683887.1:c.465del	ENSP00000506886.1:p.Glu155AspfsTer23
ENST00000684100.1:n.411del
ENST00000684126.1:n.475del
ENST00000684688.1:n.1042del
ENST00000204679.9:c.417del MANE Select	ENSP00000204679.4:p.Glu139AspfsTer23
ENST00000204679.8:c.417del	ENSP00000204679.4:p.Glu139AspfsTer23
ENST00000527076.1:n.1433del
ENST00000527168.5:n.453del
ENST00000529110.1:c.484del
ENST00000529957.5:n.516del
NM_032520.4:c.417del	NP_115909.1:p.Glu139AspfsTer23
XM_017023782.1:c.465del	XP_016879271.1:p.Glu155AspfsTer23
XM_017023783.1:c.57del	XP_016879272.1:p.Glu19AspfsTer23
NM_032520.5:c.417del MANE Select	NP_115909.1:p.Glu139AspfsTer23