Canonical Allele Identifier: CA2573106102
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571651
ClinVar RCV Id: RCV003313361
ERepo: CA2573106102/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145214_44145218dup , CM000669.2:g.44145214_44145218dup GRCh38
NC_000007.13:g.44184813_44184817dup , CM000669.1:g.44184813_44184817dup GRCh37
NC_000007.12:g.44151338_44151342dup NCBI36
NG_008847.1:g.49209_49213dup
NG_008847.2:g.57956_57960dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1317_*1321dup ENSP00000379142.4:n.*1317_*1321dup
ENST00000616242.5:c.*439_*443dup ENSP00000482149.2:n.*439_*443dup
ENST00000683378.1:n.545_549dup
ENST00000336642.9:c.353_357dup ENSP00000338009.5:p.Glu120SerfsTer?
ENST00000345378.7:c.1322_1326dup ENSP00000223366.2:p.Glu443SerfsTer?
ENST00000403799.8:c.1319_1323dup MANE Select ENSP00000384247.3:p.Glu442SerfsTer?
ENST00000671824.1:c.1382_1386dup ENSP00000500264.1:p.Glu463SerfsTer?
ENST00000672743.1:n.331_335dup
ENST00000673284.1:c.1319_1323dup ENSP00000499852.1:p.Glu442SerfsTer24
ENST00000336642.8:c.371_375dup ENSP00000338009.4:p.Glu126SerfsTer?
ENST00000345378.6:c.1322_1326dup ENSP00000223366.2:p.Glu443SerfsTer?
ENST00000395796.7:c.1316_1320dup ENSP00000379142.3:p.Glu441SerfsTer?
ENST00000403799.7:c.1319_1323dup ENSP00000384247.3:p.Glu442SerfsTer?
ENST00000437084.1:c.1268_1272dup ENSP00000402840.1:p.Glu425SerfsTer?
ENST00000459642.1:n.699_703dup
ENST00000616242.4:c.1316_1320dup ENSP00000482149.1:p.Glu441SerfsTer?
NM_000162.3:c.1319_1323dup NP_000153.1:p.Glu442SerfsTer?
NM_033507.1:c.1322_1326dup NP_277042.1:p.Glu443SerfsTer?
NM_033508.1:c.1316_1320dup NP_277043.1:p.Glu441SerfsTer?
NM_000162.4:c.1319_1323dup NP_000153.1:p.Glu442SerfsTer?
NM_001354800.1:c.1319_1323dup NP_001341729.1:p.Glu442SerfsTer24
NM_001354801.1:c.308_312dup NP_001341730.1:p.Glu105SerfsTer?
NM_001354802.1:c.179_183dup NP_001341731.1:p.Glu62SerfsTer24
NM_001354803.1:c.353_357dup NP_001341732.1:p.Glu120SerfsTer?
NM_033507.2:c.1322_1326dup NP_277042.1:p.Glu443SerfsTer?
NM_033508.2:c.1316_1320dup NP_277043.1:p.Glu441SerfsTer?
XM_024446707.1:c.179_183dup XP_024302475.1:p.Glu62SerfsTer?
NM_000162.5:c.1319_1323dup MANE Select NP_000153.1:p.Glu442SerfsTer?
NM_033507.3:c.1322_1326dup NP_277042.1:p.Glu443SerfsTer?
NM_033508.3:c.1316_1320dup NP_277043.1:p.Glu441SerfsTer?
NM_001354803.2:c.353_357dup NP_001341732.1:p.Glu120SerfsTer?
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