Canonical Allele Identifier: CA2580618181
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2580879
ClinVar RCV Id: RCV003330074
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150071_44150076del , CM000669.2:g.44150071_44150076del GRCh38
NC_000007.13:g.44189670_44189675del , CM000669.1:g.44189670_44189675del GRCh37
NC_000007.12:g.44156195_44156200del NCBI36
NG_008847.1:g.44349_44354del
NG_008847.2:g.53096_53101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*482-11_*482-6del ENSP00000379142.4:n.*482-11_*482-6del
ENST00000616242.5:c.484-11_484-6del ENSP00000482149.2:n.484-11_484-6del
ENST00000682635.1:n.970-11_970-6del
ENST00000345378.7:c.487-11_487-6del ENSP00000223366.2:n.487-11_487-6del
ENST00000403799.8:c.484-11_484-6del MANE Select ENSP00000384247.3:n.484-11_484-6del
ENST00000671824.1:c.484-11_484-6del ENSP00000500264.1:n.484-11_484-6del
ENST00000673284.1:c.484-11_484-6del ENSP00000499852.1:n.484-11_484-6del
ENST00000345378.6:c.487-11_487-6del ENSP00000223366.2:n.487-11_487-6del
ENST00000395796.7:c.481-11_481-6del ENSP00000379142.3:n.481-11_481-6del
ENST00000403799.7:c.484-11_484-6del ENSP00000384247.3:n.484-11_484-6del
ENST00000437084.1:c.433-11_433-6del ENSP00000402840.1:n.433-11_433-6del
ENST00000616242.4:c.481-11_481-6del ENSP00000482149.1:n.481-11_481-6del
NM_000162.3:c.484-11_484-6del NP_000153.1:n.484-11_484-6del
NM_033507.1:c.487-11_487-6del NP_277042.1:n.487-11_487-6del
NM_033508.1:c.481-11_481-6del NP_277043.1:n.481-11_481-6del
NM_000162.4:c.484-11_484-6del NP_000153.1:n.484-11_484-6del
NM_001354800.1:c.484-11_484-6del NP_001341729.1:n.484-11_484-6del
NM_033507.2:c.487-11_487-6del NP_277042.1:n.487-11_487-6del
NM_033508.2:c.481-11_481-6del NP_277043.1:n.481-11_481-6del
NM_000162.5:c.484-11_484-6del MANE Select NP_000153.1:n.484-11_484-6del
NM_033507.3:c.487-11_487-6del NP_277042.1:n.487-11_487-6del
NM_033508.3:c.481-11_481-6del NP_277043.1:n.481-11_481-6del
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