Canonical Allele Identifier: CA2630960130

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362308-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362309dup , CM000678.2:g.1362309dup	GRCh38
NC_000016.9:g.1412310dup , CM000678.1:g.1412310dup	GRCh37
NC_000016.8:g.1352311dup	NCBI36
NG_016985.1:g.15411dup
NG_033129.1:g.57396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.614dup
ENST00000529110.2:c.599dup	ENSP00000435349.2:p.His200GlnfsTer27
ENST00000529957.6:n.573dup
ENST00000683366.1:c.*247dup	ENSP00000507283.1:n.*247dup
ENST00000683887.1:c.563dup	ENSP00000506886.1:p.His188GlnfsTer27
ENST00000684100.1:n.509dup
ENST00000684126.1:n.573dup
ENST00000684688.1:n.1140dup
ENST00000204679.9:c.515dup MANE Select	ENSP00000204679.4:p.His172GlnfsTer27
ENST00000204679.8:c.515dup	ENSP00000204679.4:p.His172GlnfsTer27
ENST00000527076.1:n.1531dup
ENST00000527168.5:n.551dup
ENST00000529957.5:n.614dup
NM_032520.4:c.515dup	NP_115909.1:p.His172GlnfsTer27
XM_017023782.1:c.563dup	XP_016879271.1:p.His188GlnfsTer27
XM_017023783.1:c.155dup	XP_016879272.1:p.His52GlnfsTer27
NM_032520.5:c.515dup MANE Select	NP_115909.1:p.His172GlnfsTer27