Canonical Allele Identifier: CA2573106066
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2581127
ClinVar RCV Id: RCV003330369
ERepo: CA2573106066/MONDO:0007453/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145228_44145231dup , CM000669.2:g.44145228_44145231dup GRCh38
NC_000007.13:g.44184827_44184830dup , CM000669.1:g.44184827_44184830dup GRCh37
NC_000007.12:g.44151352_44151355dup NCBI36
NG_008847.1:g.49193_49196dup
NG_008847.2:g.57940_57943dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1301_*1304dup ENSP00000379142.4:n.*1301_*1304dup
ENST00000616242.5:c.*423_*426dup ENSP00000482149.2:n.*423_*426dup
ENST00000683378.1:n.529_532dup
ENST00000336642.9:c.337_340dup ENSP00000338009.5:p.Ile114ArgfsTer24
ENST00000345378.7:c.1306_1309dup ENSP00000223366.2:p.Ile437ArgfsTer24
ENST00000403799.8:c.1303_1306dup MANE Select ENSP00000384247.3:p.Ile436ArgfsTer24
ENST00000671824.1:c.1366_1369dup ENSP00000500264.1:p.Ile457ArgfsTer24
ENST00000672743.1:n.315_318dup
ENST00000673284.1:c.1303_1306dup ENSP00000499852.1:p.Ile436ArgfsTer?
ENST00000336642.8:c.355_358dup ENSP00000338009.4:p.Ile120ArgfsTer24
ENST00000345378.6:c.1306_1309dup ENSP00000223366.2:p.Ile437ArgfsTer24
ENST00000395796.7:c.1300_1303dup ENSP00000379142.3:p.Ile435ArgfsTer24
ENST00000403799.7:c.1303_1306dup ENSP00000384247.3:p.Ile436ArgfsTer24
ENST00000437084.1:c.1252_1255dup ENSP00000402840.1:p.Ile419ArgfsTer24
ENST00000459642.1:n.683_686dup
ENST00000616242.4:c.1300_1303dup ENSP00000482149.1:p.Ile435ArgfsTer24
NM_000162.3:c.1303_1306dup NP_000153.1:p.Ile436ArgfsTer24
NM_033507.1:c.1306_1309dup NP_277042.1:p.Ile437ArgfsTer24
NM_033508.1:c.1300_1303dup NP_277043.1:p.Ile435ArgfsTer24
NM_000162.4:c.1303_1306dup NP_000153.1:p.Ile436ArgfsTer24
NM_001354800.1:c.1303_1306dup NP_001341729.1:p.Ile436ArgfsTer?
NM_001354801.1:c.292_295dup NP_001341730.1:p.Ile99ArgfsTer24
NM_001354802.1:c.163_166dup NP_001341731.1:p.Ile56ArgfsTer?
NM_001354803.1:c.337_340dup NP_001341732.1:p.Ile114ArgfsTer24
NM_033507.2:c.1306_1309dup NP_277042.1:p.Ile437ArgfsTer24
NM_033508.2:c.1300_1303dup NP_277043.1:p.Ile435ArgfsTer24
XM_024446707.1:c.163_166dup XP_024302475.1:p.Ile56ArgfsTer24
NM_000162.5:c.1303_1306dup MANE Select NP_000153.1:p.Ile436ArgfsTer24
NM_033507.3:c.1306_1309dup NP_277042.1:p.Ile437ArgfsTer24
NM_033508.3:c.1300_1303dup NP_277043.1:p.Ile435ArgfsTer24
NM_001354803.2:c.337_340dup NP_001341732.1:p.Ile114ArgfsTer24
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