Canonical Allele Identifier: CA645591627

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362526-AC-A
• COSMIC: COSM4613896

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362532del , CM000678.2:g.1362532del	GRCh38
NC_000016.9:g.1412533del , CM000678.1:g.1412533del	GRCh37
NC_000016.8:g.1352534del	NCBI36
NG_016985.1:g.15634del
NG_033129.1:g.57178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.706del
ENST00000529110.2:c.691del	ENSP00000435349.2:p.Gln231ArgfsTer7
ENST00000529957.6:n.665del
ENST00000683366.1:c.*339del	ENSP00000507283.1:n.*339del
ENST00000683887.1:c.655del	ENSP00000506886.1:p.Gln219ArgfsTer7
ENST00000684100.1:n.601del
ENST00000684126.1:n.665del
ENST00000684688.1:n.1232del
ENST00000204679.9:c.607del MANE Select	ENSP00000204679.4:p.Gln203ArgfsTer7
ENST00000204679.8:c.607del	ENSP00000204679.4:p.Gln203ArgfsTer7
ENST00000527076.1:n.1754del
ENST00000527168.5:n.774del
ENST00000529957.5:n.706del
NM_032520.4:c.607del	NP_115909.1:p.Gln203ArgfsTer7
XM_017023782.1:c.655del	XP_016879271.1:p.Gln219ArgfsTer7
XM_017023783.1:c.247del	XP_016879272.1:p.Gln83ArgfsTer7
NM_032520.5:c.607del MANE Select	NP_115909.1:p.Gln203ArgfsTer7