Canonical Allele Identifier: CA2580077187
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2053147
ClinVar RCV Id: RCV002919002
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150059del , CM000669.2:g.44150059del GRCh38
NC_000007.13:g.44189658del , CM000669.1:g.44189658del GRCh37
NC_000007.12:g.44156183del NCBI36
NG_008847.1:g.44366del
NG_008847.2:g.53113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*488del ENSP00000379142.4:n.*488del
ENST00000616242.5:c.490del ENSP00000482149.2:p.Leu164PhefsTer?
ENST00000682635.1:n.976del
ENST00000345378.7:c.493del ENSP00000223366.2:p.Leu165PhefsTer?
ENST00000403799.8:c.490del MANE Select ENSP00000384247.3:p.Leu164PhefsTer?
ENST00000671824.1:c.490del ENSP00000500264.1:p.Leu164PhefsTer?
ENST00000673284.1:c.490del ENSP00000499852.1:p.Leu164PhefsTer?
ENST00000345378.6:c.493del ENSP00000223366.2:p.Leu165PhefsTer?
ENST00000395796.7:c.487del ENSP00000379142.3:p.Leu163PhefsTer?
ENST00000403799.7:c.490del ENSP00000384247.3:p.Leu164PhefsTer?
ENST00000437084.1:c.439del ENSP00000402840.1:p.Leu147PhefsTer?
ENST00000616242.4:c.487del ENSP00000482149.1:p.Leu163PhefsTer?
NM_000162.3:c.490del NP_000153.1:p.Leu164PhefsTer?
NM_033507.1:c.493del NP_277042.1:p.Leu165PhefsTer?
NM_033508.1:c.487del NP_277043.1:p.Leu163PhefsTer?
NM_000162.4:c.490del NP_000153.1:p.Leu164PhefsTer?
NM_001354800.1:c.490del NP_001341729.1:p.Leu164PhefsTer?
NM_033507.2:c.493del NP_277042.1:p.Leu165PhefsTer?
NM_033508.2:c.487del NP_277043.1:p.Leu163PhefsTer?
NM_000162.5:c.490del MANE Select NP_000153.1:p.Leu164PhefsTer?
NM_033507.3:c.493del NP_277042.1:p.Leu165PhefsTer?
NM_033508.3:c.487del NP_277043.1:p.Leu163PhefsTer?
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