Canonical Allele Identifier: CA2582341645
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2627160
ClinVar RCV Id: RCV003388354
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153456del , CM000669.2:g.44153456del GRCh38
NC_000007.13:g.44193055del , CM000669.1:g.44193055del GRCh37
NC_000007.12:g.44159580del NCBI36
NG_008847.1:g.40968del
NG_008847.2:g.49715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*51del ENSP00000379142.4:n.*51del
ENST00000616242.5:c.53del ENSP00000482149.2:p.Gln18ArgfsTer13
ENST00000682635.1:n.539del
ENST00000345378.7:c.56del ENSP00000223366.2:p.Gln19ArgfsTer13
ENST00000403799.8:c.53del MANE Select ENSP00000384247.3:p.Gln18ArgfsTer13
ENST00000671824.1:c.53del ENSP00000500264.1:p.Gln18ArgfsTer13
ENST00000673284.1:c.53del ENSP00000499852.1:p.Gln18ArgfsTer13
ENST00000345378.6:c.56del ENSP00000223366.2:p.Gln19ArgfsTer13
ENST00000395796.7:c.50del ENSP00000379142.3:p.Gln17ArgfsTer13
ENST00000403799.7:c.53del ENSP00000384247.3:p.Gln18ArgfsTer13
ENST00000437084.1:c.53del ENSP00000402840.1:p.Gln18ArgfsTer13
ENST00000476008.1:n.488del
ENST00000616242.4:c.50del ENSP00000482149.1:p.Gln17ArgfsTer13
NM_000162.3:c.53del NP_000153.1:p.Gln18ArgfsTer13
NM_033507.1:c.56del NP_277042.1:p.Gln19ArgfsTer13
NM_033508.1:c.50del NP_277043.1:p.Gln17ArgfsTer13
NM_000162.4:c.53del NP_000153.1:p.Gln18ArgfsTer13
NM_001354800.1:c.53del NP_001341729.1:p.Gln18ArgfsTer13
NM_033507.2:c.56del NP_277042.1:p.Gln19ArgfsTer13
NM_033508.2:c.50del NP_277043.1:p.Gln17ArgfsTer13
NM_000162.5:c.53del MANE Select NP_000153.1:p.Gln18ArgfsTer13
NM_033507.3:c.56del NP_277042.1:p.Gln19ArgfsTer13
NM_033508.3:c.50del NP_277043.1:p.Gln17ArgfsTer13
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