Canonical Allele Identifier: CA2580077137
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1740762
ClinVar RCV Id: RCV002328413
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150994dup , CM000669.2:g.44150994dup GRCh38
NC_000007.13:g.44190593dup , CM000669.1:g.44190593dup GRCh37
NC_000007.12:g.44157118dup NCBI36
NG_008847.1:g.43430dup
NG_008847.2:g.52177dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*443dup ENSP00000379142.4:n.*443dup
ENST00000616242.5:c.445dup ENSP00000482149.2:p.Thr149AsnfsTer13
ENST00000682635.1:n.931dup
ENST00000345378.7:c.448dup ENSP00000223366.2:p.Thr150AsnfsTer13
ENST00000403799.8:c.445dup MANE Select ENSP00000384247.3:p.Thr149AsnfsTer13
ENST00000671824.1:c.445dup ENSP00000500264.1:p.Thr149AsnfsTer13
ENST00000673284.1:c.445dup ENSP00000499852.1:p.Thr149AsnfsTer13
ENST00000345378.6:c.448dup ENSP00000223366.2:p.Thr150AsnfsTer13
ENST00000395796.7:c.442dup ENSP00000379142.3:p.Thr148AsnfsTer13
ENST00000403799.7:c.445dup ENSP00000384247.3:p.Thr149AsnfsTer13
ENST00000437084.1:c.394dup ENSP00000402840.1:p.Thr132AsnfsTer13
ENST00000616242.4:c.442dup ENSP00000482149.1:p.Thr148AsnfsTer13
NM_000162.3:c.445dup NP_000153.1:p.Thr149AsnfsTer13
NM_033507.1:c.448dup NP_277042.1:p.Thr150AsnfsTer13
NM_033508.1:c.442dup NP_277043.1:p.Thr148AsnfsTer13
NM_000162.4:c.445dup NP_000153.1:p.Thr149AsnfsTer13
NM_001354800.1:c.445dup NP_001341729.1:p.Thr149AsnfsTer13
NM_033507.2:c.448dup NP_277042.1:p.Thr150AsnfsTer13
NM_033508.2:c.442dup NP_277043.1:p.Thr148AsnfsTer13
NM_000162.5:c.445dup MANE Select NP_000153.1:p.Thr149AsnfsTer13
NM_033507.3:c.448dup NP_277042.1:p.Thr150AsnfsTer13
NM_033508.3:c.442dup NP_277043.1:p.Thr148AsnfsTer13
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