Canonical Allele Identifier: CA2580610955
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3233997
ClinVar RCV Id: RCV004527573

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145581del , CM000669.2:g.44145581del GRCh38
NC_000007.13:g.44185180del , CM000669.1:g.44185180del GRCh37
NC_000007.12:g.44151705del NCBI36
NG_008847.1:g.48843del
NG_008847.2:g.57590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1167del ENSP00000379142.4:n.*1167del
ENST00000616242.5:c.*289del ENSP00000482149.2:n.*289del
ENST00000683378.1:n.395del
ENST00000336642.9:c.203del ENSP00000338009.5:p.Ile68ThrfsTer12
ENST00000345378.7:c.1172del ENSP00000223366.2:p.Ile391ThrfsTer12
ENST00000403799.8:c.1169del MANE Select ENSP00000384247.3:p.Ile390ThrfsTer12
ENST00000671824.1:c.1232del ENSP00000500264.1:p.Ile411ThrfsTer12
ENST00000672743.1:n.181del
ENST00000673284.1:c.1169del ENSP00000499852.1:p.Ile390ThrfsTer12
ENST00000336642.8:c.221del ENSP00000338009.4:p.Ile74ThrfsTer12
ENST00000345378.6:c.1172del ENSP00000223366.2:p.Ile391ThrfsTer12
ENST00000395796.7:c.1166del ENSP00000379142.3:p.Ile389ThrfsTer12
ENST00000403799.7:c.1169del ENSP00000384247.3:p.Ile390ThrfsTer12
ENST00000437084.1:c.1118del ENSP00000402840.1:p.Ile373ThrfsTer12
ENST00000459642.1:n.549del
ENST00000616242.4:c.1166del ENSP00000482149.1:p.Ile389ThrfsTer12
NM_000162.3:c.1169del NP_000153.1:p.Ile390ThrfsTer12
NM_033507.1:c.1172del NP_277042.1:p.Ile391ThrfsTer12
NM_033508.1:c.1166del NP_277043.1:p.Ile389ThrfsTer12
NM_000162.4:c.1169del NP_000153.1:p.Ile390ThrfsTer12
NM_001354800.1:c.1169del NP_001341729.1:p.Ile390ThrfsTer12
NM_001354801.1:c.158del NP_001341730.1:p.Ile53ThrfsTer12
NM_001354802.1:c.29del NP_001341731.1:p.Ile10ThrfsTer12
NM_001354803.1:c.203del NP_001341732.1:p.Ile68ThrfsTer12
NM_033507.2:c.1172del NP_277042.1:p.Ile391ThrfsTer12
NM_033508.2:c.1166del NP_277043.1:p.Ile389ThrfsTer12
XM_024446707.1:c.29del XP_024302475.1:p.Ile10ThrfsTer12
NM_000162.5:c.1169del MANE Select NP_000153.1:p.Ile390ThrfsTer12
NM_033507.3:c.1172del NP_277042.1:p.Ile391ThrfsTer12
NM_033508.3:c.1166del NP_277043.1:p.Ile389ThrfsTer12
NM_001354803.2:c.203del NP_001341732.1:p.Ile68ThrfsTer12