Canonical Allele Identifier: CA2580615880
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2503892
ClinVar RCV Id: RCV003230883
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147699_44147703del , CM000669.2:g.44147699_44147703del GRCh38
NC_000007.13:g.44187298_44187302del , CM000669.1:g.44187298_44187302del GRCh37
NC_000007.12:g.44153823_44153827del NCBI36
NG_008847.1:g.46721_46725del
NG_008847.2:g.55468_55472del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*808_*812del ENSP00000379142.4:n.*808_*812del
ENST00000616242.5:c.810_814del ENSP00000482149.2:p.Leu271ValfsTer2
ENST00000345378.7:c.813_817del ENSP00000223366.2:p.Leu272ValfsTer2
ENST00000403799.8:c.810_814del MANE Select ENSP00000384247.3:p.Leu271ValfsTer2
ENST00000671824.1:c.810_814del ENSP00000500264.1:p.Leu271ValfsTer2
ENST00000673284.1:c.810_814del ENSP00000499852.1:p.Leu271ValfsTer2
ENST00000345378.6:c.813_817del ENSP00000223366.2:p.Leu272ValfsTer2
ENST00000395796.7:c.807_811del ENSP00000379142.3:p.Leu270ValfsTer2
ENST00000403799.7:c.810_814del ENSP00000384247.3:p.Leu271ValfsTer2
ENST00000437084.1:c.759_763del ENSP00000402840.1:p.Leu254ValfsTer2
ENST00000616242.4:c.807_811del ENSP00000482149.1:p.Leu270ValfsTer2
NM_000162.3:c.810_814del NP_000153.1:p.Leu271ValfsTer2
NM_033507.1:c.813_817del NP_277042.1:p.Leu272ValfsTer2
NM_033508.1:c.807_811del NP_277043.1:p.Leu270ValfsTer2
XR_927223.1:n.33_37del
NM_000162.4:c.810_814del NP_000153.1:p.Leu271ValfsTer2
NM_001354800.1:c.810_814del NP_001341729.1:p.Leu271ValfsTer2
NM_033507.2:c.813_817del NP_277042.1:p.Leu272ValfsTer2
NM_033508.2:c.807_811del NP_277043.1:p.Leu270ValfsTer2
XR_927223.2:n.33_37del
NM_000162.5:c.810_814del MANE Select NP_000153.1:p.Leu271ValfsTer2
NM_033507.3:c.813_817del NP_277042.1:p.Leu272ValfsTer2
NM_033508.3:c.807_811del NP_277043.1:p.Leu270ValfsTer2
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