Canonical Allele Identifier: CA2573142156
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1405428
ClinVar RCV Id: RCV001903798
dbSNP Id: rs2128823241
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153459_44153461del , CM000669.2:g.44153459_44153461del GRCh38
NC_000007.13:g.44193058_44193060del , CM000669.1:g.44193058_44193060del GRCh37
NC_000007.12:g.44159583_44159585del NCBI36
NG_008847.1:g.40963_40965del
NG_008847.2:g.49710_49712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*46_*48del ENSP00000379142.4:n.*46_*48del
ENST00000616242.5:c.48_50del ENSP00000482149.2:p.Glu17del
ENST00000682635.1:n.534_536del
ENST00000345378.7:c.51_53del ENSP00000223366.2:p.Glu18del
ENST00000403799.8:c.48_50del MANE Select ENSP00000384247.3:p.Glu17del
ENST00000671824.1:c.48_50del ENSP00000500264.1:p.Glu17del
ENST00000673284.1:c.48_50del ENSP00000499852.1:p.Glu17del
ENST00000345378.6:c.51_53del ENSP00000223366.2:p.Glu18del
ENST00000395796.7:c.45_47del ENSP00000379142.3:p.Glu16del
ENST00000403799.7:c.48_50del ENSP00000384247.3:p.Glu17del
ENST00000437084.1:c.48_50del ENSP00000402840.1:p.Glu17del
ENST00000476008.1:n.483_485del
ENST00000616242.4:c.45_47del ENSP00000482149.1:p.Glu16del
NM_000162.3:c.48_50del NP_000153.1:p.Glu17del
NM_033507.1:c.51_53del NP_277042.1:p.Glu18del
NM_033508.1:c.45_47del NP_277043.1:p.Glu16del
NM_000162.4:c.48_50del NP_000153.1:p.Glu17del
NM_001354800.1:c.48_50del NP_001341729.1:p.Glu17del
NM_033507.2:c.51_53del NP_277042.1:p.Glu18del
NM_033508.2:c.45_47del NP_277043.1:p.Glu16del
NM_000162.5:c.48_50del MANE Select NP_000153.1:p.Glu17del
NM_033507.3:c.51_53del NP_277042.1:p.Glu18del
NM_033508.3:c.45_47del NP_277043.1:p.Glu16del
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