Canonical Allele Identifier: CA7807732
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 437454
ClinVar RCV Id: RCV000502548 RCV001070439
dbSNP Id: rs756959430
ExAC: 16:1412288 A / AC
gnomAD v2: 16-1412288-A-AC
gnomAD v3: 16-1362287-A-AC
gnomAD v4: 16-1362287-A-AC
MyVariant Identifiers: chr16:g.1412294dup (hg19) chr16:g.1412289_1412290insC (hg19) chr16:g.1412288_1412289insC (hg19) chr16:g.1362293dup (hg38) chr16:g.1362288dup (hg38) chr16:g.1362287_1362288insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362293dup , CM000678.2:g.1362293dup GRCh38
NC_000016.9:g.1412294dup , CM000678.1:g.1412294dup GRCh37
NC_000016.8:g.1352295dup NCBI36
NG_016985.1:g.15395dup
NG_033129.1:g.57417dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.598dup
ENST00000529110.2:c.583dup ENSP00000435349.2:p.Leu195ProfsTer?
ENST00000529957.6:n.557dup
ENST00000683366.1:c.*231dup ENSP00000507283.1:n.*231dup
ENST00000683887.1:c.547dup ENSP00000506886.1:p.Leu183ProfsTer?
ENST00000684100.1:n.493dup
ENST00000684126.1:n.557dup
ENST00000684688.1:n.1124dup
ENST00000204679.9:c.499dup MANE Select ENSP00000204679.4:p.Leu167ProfsTer?
ENST00000204679.8:c.499dup ENSP00000204679.4:p.Leu167ProfsTer?
ENST00000527076.1:n.1515dup
ENST00000527168.5:n.535dup
ENST00000529957.5:n.598dup
NM_032520.4:c.499dup NP_115909.1:p.Leu167ProfsTer?
XM_017023782.1:c.547dup XP_016879271.1:p.Leu183ProfsTer?
XM_017023783.1:c.139dup XP_016879272.1:p.Leu47ProfsTer?
NM_032520.5:c.499dup MANE Select NP_115909.1:p.Leu167ProfsTer?
Search 100 bp 5'
Search 100 bp 3'