Canonical Allele Identifier: CA2573142152
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1452320
ClinVar RCV Id: RCV002037630
dbSNP Id: rs2128823146
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153369dup , CM000669.2:g.44153369dup GRCh38
NC_000007.13:g.44192968dup , CM000669.1:g.44192968dup GRCh37
NC_000007.12:g.44159493dup NCBI36
NG_008847.1:g.41055dup
NG_008847.2:g.49802dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*138dup ENSP00000379142.4:n.*138dup
ENST00000616242.5:c.140dup ENSP00000482149.2:p.Glu48GlyfsTer4
ENST00000682635.1:n.626dup
ENST00000345378.7:c.143dup ENSP00000223366.2:p.Glu49GlyfsTer4
ENST00000403799.8:c.140dup MANE Select ENSP00000384247.3:p.Glu48GlyfsTer4
ENST00000671824.1:c.140dup ENSP00000500264.1:p.Glu48GlyfsTer4
ENST00000673284.1:c.140dup ENSP00000499852.1:p.Glu48GlyfsTer4
ENST00000345378.6:c.143dup ENSP00000223366.2:p.Glu49GlyfsTer4
ENST00000395796.7:c.137dup ENSP00000379142.3:p.Glu47GlyfsTer4
ENST00000403799.7:c.140dup ENSP00000384247.3:p.Glu48GlyfsTer4
ENST00000437084.1:c.140dup ENSP00000402840.1:p.Glu48GlyfsTer4
ENST00000616242.4:c.137dup ENSP00000482149.1:p.Glu47GlyfsTer4
NM_000162.3:c.140dup NP_000153.1:p.Glu48GlyfsTer4
NM_033507.1:c.143dup NP_277042.1:p.Glu49GlyfsTer4
NM_033508.1:c.137dup NP_277043.1:p.Glu47GlyfsTer4
NM_000162.4:c.140dup NP_000153.1:p.Glu48GlyfsTer4
NM_001354800.1:c.140dup NP_001341729.1:p.Glu48GlyfsTer4
NM_033507.2:c.143dup NP_277042.1:p.Glu49GlyfsTer4
NM_033508.2:c.137dup NP_277043.1:p.Glu47GlyfsTer4
NM_000162.5:c.140dup MANE Select NP_000153.1:p.Glu48GlyfsTer4
NM_033507.3:c.143dup NP_277042.1:p.Glu49GlyfsTer4
NM_033508.3:c.137dup NP_277043.1:p.Glu47GlyfsTer4
Search 100 bp 5'
Search 100 bp 3'