Canonical Allele Identifier: CA2017997773
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571650
ClinVar RCV Id: RCV003313360
ERepo: CA2017997773/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145190_44145200del , CM000669.2:g.44145190_44145200del GRCh38
NC_000007.13:g.44184789_44184799del , CM000669.1:g.44184789_44184799del GRCh37
NC_000007.12:g.44151314_44151324del NCBI36
NG_008847.1:g.49225_49235del
NG_008847.2:g.57972_57982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1333_*1343del ENSP00000379142.4:n.*1333_*1343del
ENST00000616242.5:c.*455_*465del ENSP00000482149.2:n.*455_*465del
ENST00000683378.1:n.561_571del
ENST00000336642.9:c.369_379del ENSP00000338009.5:p.Arg125ProfsTer8
ENST00000345378.7:c.1338_1348del ENSP00000223366.2:p.Arg448ProfsTer8
ENST00000403799.8:c.1335_1345del MANE Select ENSP00000384247.3:p.Arg447ProfsTer8
ENST00000671824.1:c.1398_1408del ENSP00000500264.1:p.Arg468ProfsTer8
ENST00000672743.1:n.347_357del
ENST00000673284.1:c.1335_1345del ENSP00000499852.1:p.Arg447ProfsTer21
ENST00000336642.8:c.387_397del ENSP00000338009.4:p.Arg131ProfsTer8
ENST00000345378.6:c.1338_1348del ENSP00000223366.2:p.Arg448ProfsTer8
ENST00000395796.7:c.1332_1342del ENSP00000379142.3:p.Arg446ProfsTer8
ENST00000403799.7:c.1335_1345del ENSP00000384247.3:p.Arg447ProfsTer8
ENST00000437084.1:c.1284_1294del ENSP00000402840.1:p.Arg430ProfsTer8
ENST00000459642.1:n.715_725del
ENST00000616242.4:c.1332_1342del ENSP00000482149.1:p.Arg446ProfsTer8
NM_000162.3:c.1335_1345del NP_000153.1:p.Arg447ProfsTer8
NM_033507.1:c.1338_1348del NP_277042.1:p.Arg448ProfsTer8
NM_033508.1:c.1332_1342del NP_277043.1:p.Arg446ProfsTer8
NM_000162.4:c.1335_1345del NP_000153.1:p.Arg447ProfsTer8
NM_001354800.1:c.1335_1345del NP_001341729.1:p.Arg447ProfsTer21
NM_001354801.1:c.324_334del NP_001341730.1:p.Arg110ProfsTer8
NM_001354802.1:c.195_205del NP_001341731.1:p.Arg67ProfsTer21
NM_001354803.1:c.369_379del NP_001341732.1:p.Arg125ProfsTer8
NM_033507.2:c.1338_1348del NP_277042.1:p.Arg448ProfsTer8
NM_033508.2:c.1332_1342del NP_277043.1:p.Arg446ProfsTer8
XM_024446707.1:c.195_205del XP_024302475.1:p.Arg67ProfsTer8
NM_000162.5:c.1335_1345del MANE Select NP_000153.1:p.Arg447ProfsTer8
NM_033507.3:c.1338_1348del NP_277042.1:p.Arg448ProfsTer8
NM_033508.3:c.1332_1342del NP_277043.1:p.Arg446ProfsTer8
NM_001354803.2:c.369_379del NP_001341732.1:p.Arg125ProfsTer8
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