Canonical Allele Identifier: CA1139660057
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 995371
ClinVar RCV Id: RCV001289440 RCV002463806
dbSNP Id: rs2096278285
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149773del , CM000669.2:g.44149773del GRCh38
NC_000007.13:g.44189372del , CM000669.1:g.44189372del GRCh37
NC_000007.12:g.44155897del NCBI36
NG_008847.1:g.44651del
NG_008847.2:g.53398del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*664del ENSP00000379142.4:n.*664del
ENST00000616242.5:c.666del ENSP00000482149.2:p.Gly223AlafsTer2
ENST00000682635.1:n.1152del
ENST00000345378.7:c.669del ENSP00000223366.2:p.Gly224AlafsTer2
ENST00000403799.8:c.666del MANE Select ENSP00000384247.3:p.Gly223AlafsTer2
ENST00000671824.1:c.666del ENSP00000500264.1:p.Gly223AlafsTer2
ENST00000673284.1:c.666del ENSP00000499852.1:p.Gly223AlafsTer2
ENST00000345378.6:c.669del ENSP00000223366.2:p.Gly224AlafsTer2
ENST00000395796.7:c.663del ENSP00000379142.3:p.Gly222AlafsTer2
ENST00000403799.7:c.666del ENSP00000384247.3:p.Gly223AlafsTer2
ENST00000437084.1:c.615del ENSP00000402840.1:p.Gly206AlafsTer2
ENST00000616242.4:c.663del ENSP00000482149.1:p.Gly222AlafsTer2
NM_000162.3:c.666del NP_000153.1:p.Gly223AlafsTer2
NM_033507.1:c.669del NP_277042.1:p.Gly224AlafsTer2
NM_033508.1:c.663del NP_277043.1:p.Gly222AlafsTer2
XR_927223.1:n.288del
NM_000162.4:c.666del NP_000153.1:p.Gly223AlafsTer2
NM_001354800.1:c.666del NP_001341729.1:p.Gly223AlafsTer2
NM_033507.2:c.669del NP_277042.1:p.Gly224AlafsTer2
NM_033508.2:c.663del NP_277043.1:p.Gly222AlafsTer2
NM_000162.5:c.666del MANE Select NP_000153.1:p.Gly223AlafsTer2
NM_033507.3:c.669del NP_277042.1:p.Gly224AlafsTer2
NM_033508.3:c.663del NP_277043.1:p.Gly222AlafsTer2
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