Canonical Allele Identifier: CA4239537
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2820539
ClinVar RCV Id: RCV003709243
dbSNP Id: rs751505614
ExAC: 7:44187401 CT / C
gnomAD v2: 7-44187401-CT-C
gnomAD v4: 7-44147802-CT-C
MyVariant Identifiers: chr7:g.44187402del (hg19) chr7:g.44147803del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147803del , CM000669.2:g.44147803del GRCh38
NC_000007.13:g.44187402del , CM000669.1:g.44187402del GRCh37
NC_000007.12:g.44153927del NCBI36
NG_008847.1:g.46621del
NG_008847.2:g.55368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*708del ENSP00000379142.4:n.*708del
ENST00000616242.5:c.710del ENSP00000482149.2:p.Glu237GlyfsTer?
ENST00000345378.7:c.713del ENSP00000223366.2:p.Glu238GlyfsTer?
ENST00000403799.8:c.710del MANE Select ENSP00000384247.3:p.Glu237GlyfsTer?
ENST00000671824.1:c.710del ENSP00000500264.1:p.Glu237GlyfsTer?
ENST00000673284.1:c.710del ENSP00000499852.1:p.Glu237GlyfsTer?
ENST00000345378.6:c.713del ENSP00000223366.2:p.Glu238GlyfsTer?
ENST00000395796.7:c.707del ENSP00000379142.3:p.Glu236GlyfsTer?
ENST00000403799.7:c.710del ENSP00000384247.3:p.Glu237GlyfsTer?
ENST00000437084.1:c.659del ENSP00000402840.1:p.Glu220GlyfsTer?
ENST00000616242.4:c.707del ENSP00000482149.1:p.Glu236GlyfsTer?
NM_000162.3:c.710del NP_000153.1:p.Glu237GlyfsTer?
NM_033507.1:c.713del NP_277042.1:p.Glu238GlyfsTer?
NM_033508.1:c.707del NP_277043.1:p.Glu236GlyfsTer?
XR_927223.1:n.82+55del
NM_000162.4:c.710del NP_000153.1:p.Glu237GlyfsTer?
NM_001354800.1:c.710del NP_001341729.1:p.Glu237GlyfsTer?
NM_033507.2:c.713del NP_277042.1:p.Glu238GlyfsTer?
NM_033508.2:c.707del NP_277043.1:p.Glu236GlyfsTer?
XR_927223.2:n.82+55del
NM_000162.5:c.710del MANE Select NP_000153.1:p.Glu237GlyfsTer?
NM_033507.3:c.713del NP_277042.1:p.Glu238GlyfsTer?
NM_033508.3:c.707del NP_277043.1:p.Glu236GlyfsTer?
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