Canonical Allele Identifier: CA2695198476
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2662959
ClinVar RCV Id: RCV003441624
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150013_44150020del , CM000669.2:g.44150013_44150020del GRCh38
NC_000007.13:g.44189612_44189619del , CM000669.1:g.44189612_44189619del GRCh37
NC_000007.12:g.44156137_44156144del NCBI36
NG_008847.1:g.44405_44412del
NG_008847.2:g.53152_53159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*527_*534del ENSP00000379142.4:n.*527_*534del
ENST00000616242.5:c.529_536del ENSP00000482149.2:p.Glu177GlnfsTer17
ENST00000682635.1:n.1015_1022del
ENST00000345378.7:c.532_539del ENSP00000223366.2:p.Glu178GlnfsTer17
ENST00000403799.8:c.529_536del MANE Select ENSP00000384247.3:p.Glu177GlnfsTer17
ENST00000671824.1:c.529_536del ENSP00000500264.1:p.Glu177GlnfsTer17
ENST00000673284.1:c.529_536del ENSP00000499852.1:p.Glu177GlnfsTer17
ENST00000345378.6:c.532_539del ENSP00000223366.2:p.Glu178GlnfsTer17
ENST00000395796.7:c.526_533del ENSP00000379142.3:p.Glu176GlnfsTer17
ENST00000403799.7:c.529_536del ENSP00000384247.3:p.Glu177GlnfsTer17
ENST00000437084.1:c.478_485del ENSP00000402840.1:p.Glu160GlnfsTer17
ENST00000616242.4:c.526_533del ENSP00000482149.1:p.Glu176GlnfsTer17
NM_000162.3:c.529_536del NP_000153.1:p.Glu177GlnfsTer17
NM_033507.1:c.532_539del NP_277042.1:p.Glu178GlnfsTer17
NM_033508.1:c.526_533del NP_277043.1:p.Glu176GlnfsTer17
NM_000162.4:c.529_536del NP_000153.1:p.Glu177GlnfsTer17
NM_001354800.1:c.529_536del NP_001341729.1:p.Glu177GlnfsTer17
NM_033507.2:c.532_539del NP_277042.1:p.Glu178GlnfsTer17
NM_033508.2:c.526_533del NP_277043.1:p.Glu176GlnfsTer17
NM_000162.5:c.529_536del MANE Select NP_000153.1:p.Glu177GlnfsTer17
NM_033507.3:c.532_539del NP_277042.1:p.Glu178GlnfsTer17
NM_033508.3:c.526_533del NP_277043.1:p.Glu176GlnfsTer17
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