Canonical Allele Identifier: CA2017997774
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571649
ClinVar RCV Id: RCV003313359

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145196dup , CM000669.2:g.44145196dup GRCh38
NC_000007.13:g.44184795dup , CM000669.1:g.44184795dup GRCh37
NC_000007.12:g.44151320dup NCBI36
NG_008847.1:g.49229dup
NG_008847.2:g.57976dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1337dup ENSP00000379142.4:n.*1337dup
ENST00000616242.5:c.*459dup ENSP00000482149.2:n.*459dup
ENST00000683378.1:n.565dup
ENST00000336642.9:c.373dup ENSP00000338009.5:p.Arg125ProfsTer12
ENST00000345378.7:c.1342dup ENSP00000223366.2:p.Arg448ProfsTer12
ENST00000403799.8:c.1339dup MANE Select ENSP00000384247.3:p.Arg447ProfsTer12
ENST00000671824.1:c.1402dup ENSP00000500264.1:p.Arg468ProfsTer12
ENST00000672743.1:n.351dup
ENST00000673284.1:c.1339dup ENSP00000499852.1:p.Arg447ProfsTer25
ENST00000336642.8:c.391dup ENSP00000338009.4:p.Arg131ProfsTer12
ENST00000345378.6:c.1342dup ENSP00000223366.2:p.Arg448ProfsTer12
ENST00000395796.7:c.1336dup ENSP00000379142.3:p.Arg446ProfsTer12
ENST00000403799.7:c.1339dup ENSP00000384247.3:p.Arg447ProfsTer12
ENST00000437084.1:c.1288dup ENSP00000402840.1:p.Arg430ProfsTer12
ENST00000459642.1:n.719dup
ENST00000616242.4:c.1336dup ENSP00000482149.1:p.Arg446ProfsTer12
NM_000162.3:c.1339dup NP_000153.1:p.Arg447ProfsTer12
NM_033507.1:c.1342dup NP_277042.1:p.Arg448ProfsTer12
NM_033508.1:c.1336dup NP_277043.1:p.Arg446ProfsTer12
NM_000162.4:c.1339dup NP_000153.1:p.Arg447ProfsTer12
NM_001354800.1:c.1339dup NP_001341729.1:p.Arg447ProfsTer25
NM_001354801.1:c.328dup NP_001341730.1:p.Arg110ProfsTer12
NM_001354802.1:c.199dup NP_001341731.1:p.Arg67ProfsTer25
NM_001354803.1:c.373dup NP_001341732.1:p.Arg125ProfsTer12
NM_033507.2:c.1342dup NP_277042.1:p.Arg448ProfsTer12
NM_033508.2:c.1336dup NP_277043.1:p.Arg446ProfsTer12
XM_024446707.1:c.199dup XP_024302475.1:p.Arg67ProfsTer12
NM_000162.5:c.1339dup MANE Select NP_000153.1:p.Arg447ProfsTer12
NM_033507.3:c.1342dup NP_277042.1:p.Arg448ProfsTer12
NM_033508.3:c.1336dup NP_277043.1:p.Arg446ProfsTer12
NM_001354803.2:c.373dup NP_001341732.1:p.Arg125ProfsTer12