Canonical Allele Identifier: CA2499218895
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1195505
ClinVar RCV Id: RCV001558608 RCV003994308
dbSNP Id: rs2128821589
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149982_44149985dup , CM000669.2:g.44149982_44149985dup GRCh38
NC_000007.13:g.44189581_44189584dup , CM000669.1:g.44189581_44189584dup GRCh37
NC_000007.12:g.44156106_44156109dup NCBI36
NG_008847.1:g.44440_44443dup
NG_008847.2:g.53187_53190dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*562_*565dup ENSP00000379142.4:n.*562_*565dup
ENST00000616242.5:c.564_567dup ENSP00000482149.2:p.Lys190TyrfsTer8
ENST00000682635.1:n.1050_1053dup
ENST00000345378.7:c.567_570dup ENSP00000223366.2:p.Lys191TyrfsTer8
ENST00000403799.8:c.564_567dup MANE Select ENSP00000384247.3:p.Lys190TyrfsTer8
ENST00000671824.1:c.564_567dup ENSP00000500264.1:p.Lys190TyrfsTer8
ENST00000673284.1:c.564_567dup ENSP00000499852.1:p.Lys190TyrfsTer8
ENST00000345378.6:c.567_570dup ENSP00000223366.2:p.Lys191TyrfsTer8
ENST00000395796.7:c.561_564dup ENSP00000379142.3:p.Lys189TyrfsTer8
ENST00000403799.7:c.564_567dup ENSP00000384247.3:p.Lys190TyrfsTer8
ENST00000437084.1:c.513_516dup ENSP00000402840.1:p.Lys173TyrfsTer8
ENST00000616242.4:c.561_564dup ENSP00000482149.1:p.Lys189TyrfsTer8
NM_000162.3:c.564_567dup NP_000153.1:p.Lys190TyrfsTer8
NM_033507.1:c.567_570dup NP_277042.1:p.Lys191TyrfsTer8
NM_033508.1:c.561_564dup NP_277043.1:p.Lys189TyrfsTer8
NM_000162.4:c.564_567dup NP_000153.1:p.Lys190TyrfsTer8
NM_001354800.1:c.564_567dup NP_001341729.1:p.Lys190TyrfsTer8
NM_033507.2:c.567_570dup NP_277042.1:p.Lys191TyrfsTer8
NM_033508.2:c.561_564dup NP_277043.1:p.Lys189TyrfsTer8
NM_000162.5:c.564_567dup MANE Select NP_000153.1:p.Lys190TyrfsTer8
NM_033507.3:c.567_570dup NP_277042.1:p.Lys191TyrfsTer8
NM_033508.3:c.561_564dup NP_277043.1:p.Lys189TyrfsTer8
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