Canonical Allele Identifier: CA10603051
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 280498
ClinVar RCV Id: RCV000320367 RCV002465607
dbSNP Id: rs886041690
MyVariant Identifiers: chr7:g.44192960dupG (hg19) chr7:g.44192959_44192960insG (hg19) chr7:g.44153361dupG (hg38) chr7:g.44153360_44153361insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153363dup , CM000669.2:g.44153363dup GRCh38
NC_000007.13:g.44192962dup , CM000669.1:g.44192962dup GRCh37
NC_000007.12:g.44159487dup NCBI36
NG_008847.1:g.41063dup
NG_008847.2:g.49810dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*146dup ENSP00000379142.4:n.*146dup
ENST00000616242.5:c.148dup ENSP00000482149.2:p.His50ProfsTer2
ENST00000682635.1:n.634dup
ENST00000345378.7:c.151dup ENSP00000223366.2:p.His51ProfsTer2
ENST00000403799.8:c.148dup MANE Select ENSP00000384247.3:p.His50ProfsTer2
ENST00000671824.1:c.148dup ENSP00000500264.1:p.His50ProfsTer2
ENST00000673284.1:c.148dup ENSP00000499852.1:p.His50ProfsTer2
ENST00000345378.6:c.151dup ENSP00000223366.2:p.His51ProfsTer2
ENST00000395796.7:c.145dup ENSP00000379142.3:p.His49ProfsTer2
ENST00000403799.7:c.148dup ENSP00000384247.3:p.His50ProfsTer2
ENST00000437084.1:c.148dup ENSP00000402840.1:p.His50ProfsTer2
ENST00000616242.4:c.145dup ENSP00000482149.1:p.His49ProfsTer2
NM_000162.3:c.148dup NP_000153.1:p.His50ProfsTer2
NM_033507.1:c.151dup NP_277042.1:p.His51ProfsTer2
NM_033508.1:c.145dup NP_277043.1:p.His49ProfsTer2
NM_000162.4:c.148dup NP_000153.1:p.His50ProfsTer2
NM_001354800.1:c.148dup NP_001341729.1:p.His50ProfsTer2
NM_033507.2:c.151dup NP_277042.1:p.His51ProfsTer2
NM_033508.2:c.145dup NP_277043.1:p.His49ProfsTer2
NM_000162.5:c.148dup MANE Select NP_000153.1:p.His50ProfsTer2
NM_033507.3:c.151dup NP_277042.1:p.His51ProfsTer2
NM_033508.3:c.145dup NP_277043.1:p.His49ProfsTer2
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