Canonical Allele Identifier: CA7807946

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2156203
• ClinVar RCV Id: RCV003084079
• dbSNP Id: rs754893828
• ExAC: 16:1412861 G / GA
• gnomAD v2: 16-1412861-G-GA
• gnomAD v4: 16-1362860-G-GA
• MyVariant Identifiers: chr16:g.1412861_1412862insA (hg19) ; chr16:g.1362860_1362861insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362863dup , CM000678.2:g.1362863dup	GRCh38
NC_000016.9:g.1412864dup , CM000678.1:g.1412864dup	GRCh37
NC_000016.8:g.1352865dup	NCBI36
NG_016985.1:g.15965dup
NG_033129.1:g.56844dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.879dup
ENST00000529110.2:c.864dup	ENSP00000435349.2:p.Gly289ArgfsTer?
ENST00000529957.6:n.838dup
ENST00000683366.1:c.*512dup	ENSP00000507283.1:n.*512dup
ENST00000683887.1:c.828dup	ENSP00000506886.1:p.Gly277ArgfsTer?
ENST00000684100.1:n.774dup
ENST00000684126.1:n.914dup
ENST00000684688.1:n.1405dup
ENST00000204679.9:c.780dup MANE Select	ENSP00000204679.4:p.Gly261ArgfsTer?
ENST00000204679.8:c.780dup	ENSP00000204679.4:p.Gly261ArgfsTer?
ENST00000527076.1:n.2003dup
ENST00000527168.5:n.947dup
ENST00000529957.5:n.879dup
NM_032520.4:c.780dup	NP_115909.1:p.Gly261ArgfsTer?
XM_017023782.1:c.828dup	XP_016879271.1:p.Gly277ArgfsTer?
XM_017023783.1:c.420dup	XP_016879272.1:p.Gly141ArgfsTer?
NM_032520.5:c.780dup MANE Select	NP_115909.1:p.Gly261ArgfsTer?