Canonical Allele Identifier: CA2805551944

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362056dup , CM000678.2:g.1362056dup	GRCh38
NC_000016.9:g.1412057dup , CM000678.1:g.1412057dup	GRCh37
NC_000016.8:g.1352058dup	NCBI36
NG_016985.1:g.15158dup
NG_033129.1:g.57649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.435dup
ENST00000529110.2:c.420dup	ENSP00000435349.2:p.Ile141AspfsTer15
ENST00000529957.6:n.394dup
ENST00000683366.1:c.*68dup	ENSP00000507283.1:n.*68dup
ENST00000683887.1:c.384dup	ENSP00000506886.1:p.Ile129AspfsTer15
ENST00000684100.1:n.330dup
ENST00000684126.1:n.394dup
ENST00000684688.1:n.961dup
ENST00000204679.9:c.336dup MANE Select	ENSP00000204679.4:p.Ile113AspfsTer15
ENST00000204679.8:c.336dup	ENSP00000204679.4:p.Ile113AspfsTer15
ENST00000526820.5:c.*238dup	ENSP00000434413.1:n.*238dup
ENST00000527076.1:n.1352dup
ENST00000527168.5:n.372dup
ENST00000529110.1:c.403dup
ENST00000529957.5:n.435dup
NM_032520.4:c.336dup	NP_115909.1:p.Ile113AspfsTer15
XM_017023782.1:c.384dup	XP_016879271.1:p.Ile129AspfsTer15
XM_017023783.1:c.-25dup	XP_016879272.1:n.-25dup
NM_032520.5:c.336dup MANE Select	NP_115909.1:p.Ile113AspfsTer15