Canonical Allele Identifier: CA2573142155
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1387176
ClinVar RCV Id: RCV001881812
dbSNP Id: rs2128823213
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153423del , CM000669.2:g.44153423del GRCh38
NC_000007.13:g.44193022del , CM000669.1:g.44193022del GRCh37
NC_000007.12:g.44159547del NCBI36
NG_008847.1:g.41001del
NG_008847.2:g.49748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*84del ENSP00000379142.4:n.*84del
ENST00000616242.5:c.86del ENSP00000482149.2:p.Asp29AlafsTer2
ENST00000682635.1:n.572del
ENST00000345378.7:c.89del ENSP00000223366.2:p.Asp30AlafsTer2
ENST00000403799.8:c.86del MANE Select ENSP00000384247.3:p.Asp29AlafsTer2
ENST00000671824.1:c.86del ENSP00000500264.1:p.Asp29AlafsTer2
ENST00000673284.1:c.86del ENSP00000499852.1:p.Asp29AlafsTer2
ENST00000345378.6:c.89del ENSP00000223366.2:p.Asp30AlafsTer2
ENST00000395796.7:c.83del ENSP00000379142.3:p.Asp28AlafsTer2
ENST00000403799.7:c.86del ENSP00000384247.3:p.Asp29AlafsTer2
ENST00000437084.1:c.86del ENSP00000402840.1:p.Asp29AlafsTer2
ENST00000476008.1:n.521del
ENST00000616242.4:c.83del ENSP00000482149.1:p.Asp28AlafsTer2
NM_000162.3:c.86del NP_000153.1:p.Asp29AlafsTer2
NM_033507.1:c.89del NP_277042.1:p.Asp30AlafsTer2
NM_033508.1:c.83del NP_277043.1:p.Asp28AlafsTer2
NM_000162.4:c.86del NP_000153.1:p.Asp29AlafsTer2
NM_001354800.1:c.86del NP_001341729.1:p.Asp29AlafsTer2
NM_033507.2:c.89del NP_277042.1:p.Asp30AlafsTer2
NM_033508.2:c.83del NP_277043.1:p.Asp28AlafsTer2
NM_000162.5:c.86del MANE Select NP_000153.1:p.Asp29AlafsTer2
NM_033507.3:c.89del NP_277042.1:p.Asp30AlafsTer2
NM_033508.3:c.83del NP_277043.1:p.Asp28AlafsTer2
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