Canonical Allele Identifier: CA658655971
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 451690
ClinVar RCV Id: RCV000523399 RCV002464025
dbSNP Id: rs1554335598
ERepo: CA658655971/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151011_44151012delinsAG , CM000669.2:g.44151011_44151012delinsAG GRCh38
NC_000007.13:g.44190610_44190611delinsAG , CM000669.1:g.44190610_44190611delinsAG GRCh37
NC_000007.12:g.44157135_44157136delinsAG NCBI36
NG_008847.1:g.43412_43413delinsCT
NG_008847.2:g.52159_52160delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*425_*426delinsCT ENSP00000379142.4:n.*425_*426delinsCT
ENST00000616242.5:c.427_428delinsCT ENSP00000482149.2:p.Lys143Leu
ENST00000682635.1:n.913_914delinsCT
ENST00000345378.7:c.430_431delinsCT ENSP00000223366.2:p.Lys144Leu
ENST00000403799.8:c.427_428delinsCT MANE Select ENSP00000384247.3:p.Lys143Leu
ENST00000671824.1:c.427_428delinsCT ENSP00000500264.1:p.Lys143Leu
ENST00000673284.1:c.427_428delinsCT ENSP00000499852.1:p.Lys143Leu
ENST00000345378.6:c.430_431delinsCT ENSP00000223366.2:p.Lys144Leu
ENST00000395796.7:c.424_425delinsCT ENSP00000379142.3:p.Lys142Leu
ENST00000403799.7:c.427_428delinsCT ENSP00000384247.3:p.Lys143Leu
ENST00000437084.1:c.376_377delinsCT ENSP00000402840.1:p.Lys126Leu
ENST00000616242.4:c.424_425delinsCT ENSP00000482149.1:p.Lys142Leu
NM_000162.3:c.427_428delinsCT NP_000153.1:p.Lys143Leu
NM_033507.1:c.430_431delinsCT NP_277042.1:p.Lys144Leu
NM_033508.1:c.424_425delinsCT NP_277043.1:p.Lys142Leu
NM_000162.4:c.427_428delinsCT NP_000153.1:p.Lys143Leu
NM_001354800.1:c.427_428delinsCT NP_001341729.1:p.Lys143Leu
NM_033507.2:c.430_431delinsCT NP_277042.1:p.Lys144Leu
NM_033508.2:c.424_425delinsCT NP_277043.1:p.Lys142Leu
NM_000162.5:c.427_428delinsCT MANE Select NP_000153.1:p.Lys143Leu
NM_033507.3:c.430_431delinsCT NP_277042.1:p.Lys144Leu
NM_033508.3:c.424_425delinsCT NP_277043.1:p.Lys142Leu
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