Canonical Allele Identifier: CA620700257

Gene: GNPTG

Linked Data

• dbSNP Id: rs1291496420
• gnomAD v2: 16-1412837-A-ACT
• gnomAD v4: 16-1362836-A-ACT
• MyVariant Identifiers: chr16:g.1412837_1412838insCT (hg19) ; chr16:g.1362836_1362837insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362840_1362841dup , CM000678.2:g.1362840_1362841dup	GRCh38
NC_000016.9:g.1412841_1412842dup , CM000678.1:g.1412841_1412842dup	GRCh37
NC_000016.8:g.1352842_1352843dup	NCBI36
NG_016985.1:g.15942_15943dup
NG_033129.1:g.56867_56868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.856_857dup
ENST00000529110.2:c.841_842dup	ENSP00000435349.2:p.Lys282GlnfsTer7
ENST00000529957.6:n.815_816dup
ENST00000683366.1:c.*489_*490dup	ENSP00000507283.1:n.*489_*490dup
ENST00000683887.1:c.805_806dup	ENSP00000506886.1:p.Lys270GlnfsTer7
ENST00000684100.1:n.751_752dup
ENST00000684126.1:n.891_892dup
ENST00000684688.1:n.1382_1383dup
ENST00000204679.9:c.757_758dup MANE Select	ENSP00000204679.4:p.Lys254GlnfsTer7
ENST00000204679.8:c.757_758dup	ENSP00000204679.4:p.Lys254GlnfsTer7
ENST00000527076.1:n.1980_1981dup
ENST00000527168.5:n.924_925dup
ENST00000529957.5:n.856_857dup
NM_032520.4:c.757_758dup	NP_115909.1:p.Lys254GlnfsTer7
XM_017023782.1:c.805_806dup	XP_016879271.1:p.Lys270GlnfsTer7
XM_017023783.1:c.397_398dup	XP_016879272.1:p.Lys134GlnfsTer7
NM_032520.5:c.757_758dup MANE Select	NP_115909.1:p.Lys254GlnfsTer7