Canonical Allele Identifier: CA2630961884

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362844-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362846dup , CM000678.2:g.1362846dup	GRCh38
NC_000016.9:g.1412847dup , CM000678.1:g.1412847dup	GRCh37
NC_000016.8:g.1352848dup	NCBI36
NG_016985.1:g.15948dup
NG_033129.1:g.56860dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.862dup
ENST00000529110.2:c.847dup	ENSP00000435349.2:p.Glu283GlyfsTer?
ENST00000529957.6:n.821dup
ENST00000683366.1:c.*495dup	ENSP00000507283.1:n.*495dup
ENST00000683887.1:c.811dup	ENSP00000506886.1:p.Glu271GlyfsTer?
ENST00000684100.1:n.757dup
ENST00000684126.1:n.897dup
ENST00000684688.1:n.1388dup
ENST00000204679.9:c.763dup MANE Select	ENSP00000204679.4:p.Glu255GlyfsTer?
ENST00000204679.8:c.763dup	ENSP00000204679.4:p.Glu255GlyfsTer?
ENST00000527076.1:n.1986dup
ENST00000527168.5:n.930dup
ENST00000529957.5:n.862dup
NM_032520.4:c.763dup	NP_115909.1:p.Glu255GlyfsTer?
XM_017023782.1:c.811dup	XP_016879271.1:p.Glu271GlyfsTer?
XM_017023783.1:c.403dup	XP_016879272.1:p.Glu135GlyfsTer?
NM_032520.5:c.763dup MANE Select	NP_115909.1:p.Glu255GlyfsTer?