Canonical Allele Identifier: CA1703634894
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147699_44147702delinsCCAG , CM000669.2:g.44147699_44147702delinsCCAG GRCh38
NC_000007.13:g.44187298_44187301delinsCCAG , CM000669.1:g.44187298_44187301delinsCCAG GRCh37
NC_000007.12:g.44153823_44153826delinsCCAG NCBI36
NG_008847.1:g.46722_46725delinsCTGG
NG_008847.2:g.55469_55472delinsCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*809_*812delinsCTGG ENSP00000379142.4:n.*809_*812delinsCTGG
ENST00000616242.5:c.811_814delinsCTGG ENSP00000482149.2:p.Leu271=
ENST00000345378.7:c.814_817delinsCTGG ENSP00000223366.2:p.Leu272=
ENST00000403799.8:c.811_814delinsCTGG MANE Select ENSP00000384247.3:p.Leu271=
ENST00000671824.1:c.811_814delinsCTGG ENSP00000500264.1:p.Leu271=
ENST00000673284.1:c.811_814delinsCTGG ENSP00000499852.1:p.Leu271=
ENST00000345378.6:c.814_817delinsCTGG ENSP00000223366.2:p.Leu272=
ENST00000395796.7:c.808_811delinsCTGG ENSP00000379142.3:p.Leu270=
ENST00000403799.7:c.811_814delinsCTGG ENSP00000384247.3:p.Leu271=
ENST00000437084.1:c.760_763delinsCTGG ENSP00000402840.1:p.Leu254=
ENST00000616242.4:c.808_811delinsCTGG ENSP00000482149.1:p.Leu270=
NM_000162.3:c.811_814delinsCTGG NP_000153.1:p.Leu271=
NM_033507.1:c.814_817delinsCTGG NP_277042.1:p.Leu272=
NM_033508.1:c.808_811delinsCTGG NP_277043.1:p.Leu270=
XR_927223.1:n.33_36delinsCCAG
NM_000162.4:c.811_814delinsCTGG NP_000153.1:p.Leu271=
NM_001354800.1:c.811_814delinsCTGG NP_001341729.1:p.Leu271=
NM_033507.2:c.814_817delinsCTGG NP_277042.1:p.Leu272=
NM_033508.2:c.808_811delinsCTGG NP_277043.1:p.Leu270=
XR_927223.2:n.33_36delinsCCAG
NM_000162.5:c.811_814delinsCTGG MANE Select NP_000153.1:p.Leu271=
NM_033507.3:c.814_817delinsCTGG NP_277042.1:p.Leu272=
NM_033508.3:c.808_811delinsCTGG NP_277043.1:p.Leu270=
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