Canonical Allele Identifier: CA2697557250
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2701589
ClinVar RCV Id: RCV003549749
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147815_44147817del , CM000669.2:g.44147815_44147817del GRCh38
NC_000007.13:g.44187414_44187416del , CM000669.1:g.44187414_44187416del GRCh37
NC_000007.12:g.44153939_44153941del NCBI36
NG_008847.1:g.46609_46611del
NG_008847.2:g.55356_55358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*696_*698del ENSP00000379142.4:n.*696_*698del
ENST00000616242.5:c.698_700del ENSP00000482149.2:p.Cys233del
ENST00000345378.7:c.701_703del ENSP00000223366.2:p.Cys234del
ENST00000403799.8:c.698_700del MANE Select ENSP00000384247.3:p.Cys233del
ENST00000671824.1:c.698_700del ENSP00000500264.1:p.Cys233del
ENST00000673284.1:c.698_700del ENSP00000499852.1:p.Cys233del
ENST00000345378.6:c.701_703del ENSP00000223366.2:p.Cys234del
ENST00000395796.7:c.695_697del ENSP00000379142.3:p.Cys232del
ENST00000403799.7:c.698_700del ENSP00000384247.3:p.Cys233del
ENST00000437084.1:c.647_649del ENSP00000402840.1:p.Cys216del
ENST00000616242.4:c.695_697del ENSP00000482149.1:p.Cys232del
NM_000162.3:c.698_700del NP_000153.1:p.Cys233del
NM_033507.1:c.701_703del NP_277042.1:p.Cys234del
NM_033508.1:c.695_697del NP_277043.1:p.Cys232del
XR_927223.1:n.82+67_82+69del
NM_000162.4:c.698_700del NP_000153.1:p.Cys233del
NM_001354800.1:c.698_700del NP_001341729.1:p.Cys233del
NM_033507.2:c.701_703del NP_277042.1:p.Cys234del
NM_033508.2:c.695_697del NP_277043.1:p.Cys232del
XR_927223.2:n.82+67_82+69del
NM_000162.5:c.698_700del MANE Select NP_000153.1:p.Cys233del
NM_033507.3:c.701_703del NP_277042.1:p.Cys234del
NM_033508.3:c.695_697del NP_277043.1:p.Cys232del
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