Canonical Allele Identifier: CA2578878369
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150002del , CM000669.2:g.44150002del GRCh38
NC_000007.13:g.44189601del , CM000669.1:g.44189601del GRCh37
NC_000007.12:g.44156126del NCBI36
NG_008847.1:g.44425del
NG_008847.2:g.53172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*547del ENSP00000379142.4:n.*547del
ENST00000616242.5:c.549del ENSP00000482149.2:p.Leu184PhefsTer20
ENST00000682635.1:n.1035del
ENST00000345378.7:c.552del ENSP00000223366.2:p.Leu185PhefsTer20
ENST00000403799.8:c.549del MANE Select ENSP00000384247.3:p.Leu184PhefsTer20
ENST00000671824.1:c.549del ENSP00000500264.1:p.Leu184PhefsTer20
ENST00000673284.1:c.549del ENSP00000499852.1:p.Leu184PhefsTer20
ENST00000345378.6:c.552del ENSP00000223366.2:p.Leu185PhefsTer20
ENST00000395796.7:c.546del ENSP00000379142.3:p.Leu183PhefsTer20
ENST00000403799.7:c.549del ENSP00000384247.3:p.Leu184PhefsTer20
ENST00000437084.1:c.498del ENSP00000402840.1:p.Leu167PhefsTer20
ENST00000616242.4:c.546del ENSP00000482149.1:p.Leu183PhefsTer20
NM_000162.3:c.549del NP_000153.1:p.Leu184PhefsTer20
NM_033507.1:c.552del NP_277042.1:p.Leu185PhefsTer20
NM_033508.1:c.546del NP_277043.1:p.Leu183PhefsTer20
NM_000162.4:c.549del NP_000153.1:p.Leu184PhefsTer20
NM_001354800.1:c.549del NP_001341729.1:p.Leu184PhefsTer20
NM_033507.2:c.552del NP_277042.1:p.Leu185PhefsTer20
NM_033508.2:c.546del NP_277043.1:p.Leu183PhefsTer20
NM_000162.5:c.549del MANE Select NP_000153.1:p.Leu184PhefsTer20
NM_033507.3:c.552del NP_277042.1:p.Leu185PhefsTer20
NM_033508.3:c.546del NP_277043.1:p.Leu183PhefsTer20
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