Canonical Allele Identifier: CA2739265440
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2921197
ClinVar RCV Id: RCV003740618

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147664dup , CM000669.2:g.44147664dup GRCh38
NC_000007.13:g.44187263dup , CM000669.1:g.44187263dup GRCh37
NC_000007.12:g.44153788dup NCBI36
NG_008847.1:g.46763dup
NG_008847.2:g.55510dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*850dup ENSP00000379142.4:n.*850dup
ENST00000616242.5:c.852dup ENSP00000482149.2:p.Gly285ArgfsTer?
ENST00000345378.7:c.855dup ENSP00000223366.2:p.Gly286ArgfsTer6
ENST00000403799.8:c.852dup MANE Select ENSP00000384247.3:p.Gly285ArgfsTer6
ENST00000671824.1:c.852dup ENSP00000500264.1:p.Gly285ArgfsTer2
ENST00000673284.1:c.852dup ENSP00000499852.1:p.Gly285ArgfsTer6
ENST00000345378.6:c.855dup ENSP00000223366.2:p.Gly286ArgfsTer6
ENST00000395796.7:c.849dup ENSP00000379142.3:p.Gly284ArgfsTer6
ENST00000403799.7:c.852dup ENSP00000384247.3:p.Gly285ArgfsTer6
ENST00000437084.1:c.801dup ENSP00000402840.1:p.Gly268ArgfsTer6
ENST00000616242.4:c.849dup ENSP00000482149.1:p.Gly284ArgfsTer6
NM_000162.3:c.852dup NP_000153.1:p.Gly285ArgfsTer6
NM_033507.1:c.855dup NP_277042.1:p.Gly286ArgfsTer6
NM_033508.1:c.849dup NP_277043.1:p.Gly284ArgfsTer6
NM_000162.4:c.852dup NP_000153.1:p.Gly285ArgfsTer6
NM_001354800.1:c.852dup NP_001341729.1:p.Gly285ArgfsTer6
NM_033507.2:c.855dup NP_277042.1:p.Gly286ArgfsTer6
NM_033508.2:c.849dup NP_277043.1:p.Gly284ArgfsTer6
NM_000162.5:c.852dup MANE Select NP_000153.1:p.Gly285ArgfsTer6
NM_033507.3:c.855dup NP_277042.1:p.Gly286ArgfsTer6
NM_033508.3:c.849dup NP_277043.1:p.Gly284ArgfsTer6