Canonical Allele Identifier: CA2580612100
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2691825
ClinVar RCV Id: RCV003494022

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145606del , CM000669.2:g.44145606del GRCh38
NC_000007.13:g.44185205del , CM000669.1:g.44185205del GRCh37
NC_000007.12:g.44151730del NCBI36
NG_008847.1:g.48818del
NG_008847.2:g.57565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1142del ENSP00000379142.4:n.*1142del
ENST00000616242.5:c.*264del ENSP00000482149.2:n.*264del
ENST00000683378.1:n.370del
ENST00000336642.9:c.178del ENSP00000338009.5:p.Cys60AlafsTer20
ENST00000345378.7:c.1147del ENSP00000223366.2:p.Cys383AlafsTer20
ENST00000403799.8:c.1144del MANE Select ENSP00000384247.3:p.Cys382AlafsTer20
ENST00000671824.1:c.1207del ENSP00000500264.1:p.Cys403AlafsTer20
ENST00000672743.1:n.156del
ENST00000673284.1:c.1144del ENSP00000499852.1:p.Cys382AlafsTer20
ENST00000336642.8:c.196del ENSP00000338009.4:p.Cys66AlafsTer20
ENST00000345378.6:c.1147del ENSP00000223366.2:p.Cys383AlafsTer20
ENST00000395796.7:c.1141del ENSP00000379142.3:p.Cys381AlafsTer20
ENST00000403799.7:c.1144del ENSP00000384247.3:p.Cys382AlafsTer20
ENST00000437084.1:c.1093del ENSP00000402840.1:p.Cys365AlafsTer20
ENST00000459642.1:n.524del
ENST00000616242.4:c.1141del ENSP00000482149.1:p.Cys381AlafsTer20
NM_000162.3:c.1144del NP_000153.1:p.Cys382AlafsTer20
NM_033507.1:c.1147del NP_277042.1:p.Cys383AlafsTer20
NM_033508.1:c.1141del NP_277043.1:p.Cys381AlafsTer20
NM_000162.4:c.1144del NP_000153.1:p.Cys382AlafsTer20
NM_001354800.1:c.1144del NP_001341729.1:p.Cys382AlafsTer20
NM_001354801.1:c.133del NP_001341730.1:p.Cys45AlafsTer20
NM_001354802.1:c.4del NP_001341731.1:p.Cys2AlafsTer20
NM_001354803.1:c.178del NP_001341732.1:p.Cys60AlafsTer20
NM_033507.2:c.1147del NP_277042.1:p.Cys383AlafsTer20
NM_033508.2:c.1141del NP_277043.1:p.Cys381AlafsTer20
XM_024446707.1:c.4del XP_024302475.1:p.Cys2AlafsTer20
NM_000162.5:c.1144del MANE Select NP_000153.1:p.Cys382AlafsTer20
NM_033507.3:c.1147del NP_277042.1:p.Cys383AlafsTer20
NM_033508.3:c.1141del NP_277043.1:p.Cys381AlafsTer20
NM_001354803.2:c.178del NP_001341732.1:p.Cys60AlafsTer20