Canonical Allele Identifier: CA2573106065
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2628360
ClinVar RCV Id: RCV003397215

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145229dup , CM000669.2:g.44145229dup GRCh38
NC_000007.13:g.44184828dup , CM000669.1:g.44184828dup GRCh37
NC_000007.12:g.44151353dup NCBI36
NG_008847.1:g.49195dup
NG_008847.2:g.57942dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1303dup ENSP00000379142.4:n.*1303dup
ENST00000616242.5:c.*425dup ENSP00000482149.2:n.*425dup
ENST00000683378.1:n.531dup
ENST00000336642.9:c.339dup ENSP00000338009.5:p.Ile114AspfsTer23
ENST00000345378.7:c.1308dup ENSP00000223366.2:p.Ile437AspfsTer23
ENST00000403799.8:c.1305dup MANE Select ENSP00000384247.3:p.Ile436AspfsTer23
ENST00000671824.1:c.1368dup ENSP00000500264.1:p.Ile457AspfsTer23
ENST00000672743.1:n.317dup
ENST00000673284.1:c.1305dup ENSP00000499852.1:p.Ile436AspfsTer?
ENST00000336642.8:c.357dup ENSP00000338009.4:p.Ile120AspfsTer23
ENST00000345378.6:c.1308dup ENSP00000223366.2:p.Ile437AspfsTer23
ENST00000395796.7:c.1302dup ENSP00000379142.3:p.Ile435AspfsTer23
ENST00000403799.7:c.1305dup ENSP00000384247.3:p.Ile436AspfsTer23
ENST00000437084.1:c.1254dup ENSP00000402840.1:p.Ile419AspfsTer23
ENST00000459642.1:n.685dup
ENST00000616242.4:c.1302dup ENSP00000482149.1:p.Ile435AspfsTer23
NM_000162.3:c.1305dup NP_000153.1:p.Ile436AspfsTer23
NM_033507.1:c.1308dup NP_277042.1:p.Ile437AspfsTer23
NM_033508.1:c.1302dup NP_277043.1:p.Ile435AspfsTer23
NM_000162.4:c.1305dup NP_000153.1:p.Ile436AspfsTer23
NM_001354800.1:c.1305dup NP_001341729.1:p.Ile436AspfsTer?
NM_001354801.1:c.294dup NP_001341730.1:p.Ile99AspfsTer23
NM_001354802.1:c.165dup NP_001341731.1:p.Ile56AspfsTer?
NM_001354803.1:c.339dup NP_001341732.1:p.Ile114AspfsTer23
NM_033507.2:c.1308dup NP_277042.1:p.Ile437AspfsTer23
NM_033508.2:c.1302dup NP_277043.1:p.Ile435AspfsTer23
XM_024446707.1:c.165dup XP_024302475.1:p.Ile56AspfsTer23
NM_000162.5:c.1305dup MANE Select NP_000153.1:p.Ile436AspfsTer23
NM_033507.3:c.1308dup NP_277042.1:p.Ile437AspfsTer23
NM_033508.3:c.1302dup NP_277043.1:p.Ile435AspfsTer23
NM_001354803.2:c.339dup NP_001341732.1:p.Ile114AspfsTer23