Canonical Allele Identifier: CA2630961940

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362865-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362868dup , CM000678.2:g.1362868dup	GRCh38
NC_000016.9:g.1412869dup , CM000678.1:g.1412869dup	GRCh37
NC_000016.8:g.1352870dup	NCBI36
NG_016985.1:g.15970dup
NG_033129.1:g.56839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.884dup
ENST00000529110.2:c.869dup	ENSP00000435349.2:p.Leu290PhefsTer?
ENST00000529957.6:n.843dup
ENST00000683366.1:c.*517dup	ENSP00000507283.1:n.*517dup
ENST00000683887.1:c.833dup	ENSP00000506886.1:p.Leu278PhefsTer?
ENST00000684100.1:n.779dup
ENST00000684126.1:n.919dup
ENST00000684688.1:n.1410dup
ENST00000204679.9:c.785dup MANE Select	ENSP00000204679.4:p.Leu262PhefsTer?
ENST00000204679.8:c.785dup	ENSP00000204679.4:p.Leu262PhefsTer?
ENST00000527076.1:n.2008dup
ENST00000527168.5:n.952dup
ENST00000529957.5:n.884dup
NM_032520.4:c.785dup	NP_115909.1:p.Leu262PhefsTer?
XM_017023782.1:c.833dup	XP_016879271.1:p.Leu278PhefsTer?
XM_017023783.1:c.425dup	XP_016879272.1:p.Leu142PhefsTer?
NM_032520.5:c.785dup MANE Select	NP_115909.1:p.Leu262PhefsTer?