Canonical Allele Identifier: CA2580077170
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1709689
ClinVar RCV Id: RCV002289504
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44153359dup , CM000669.2:g.44153359dup GRCh38
NC_000007.13:g.44192958dup , CM000669.1:g.44192958dup GRCh37
NC_000007.12:g.44159483dup NCBI36
NG_008847.1:g.41065dup
NG_008847.2:g.49812dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*148dup ENSP00000379142.4:n.*148dup
ENST00000616242.5:c.150dup ENSP00000482149.2:p.Glu51Ter
ENST00000682635.1:n.636dup
ENST00000345378.7:c.153dup ENSP00000223366.2:p.Glu52Ter
ENST00000403799.8:c.150dup MANE Select ENSP00000384247.3:p.Glu51Ter
ENST00000671824.1:c.150dup ENSP00000500264.1:p.Glu51Ter
ENST00000673284.1:c.150dup ENSP00000499852.1:p.Glu51Ter
ENST00000345378.6:c.153dup ENSP00000223366.2:p.Glu52Ter
ENST00000395796.7:c.147dup ENSP00000379142.3:p.Glu50Ter
ENST00000403799.7:c.150dup ENSP00000384247.3:p.Glu51Ter
ENST00000437084.1:c.150dup ENSP00000402840.1:p.Glu51Ter
ENST00000616242.4:c.147dup ENSP00000482149.1:p.Glu50Ter
NM_000162.3:c.150dup NP_000153.1:p.Glu51Ter
NM_033507.1:c.153dup NP_277042.1:p.Glu52Ter
NM_033508.1:c.147dup NP_277043.1:p.Glu50Ter
NM_000162.4:c.150dup NP_000153.1:p.Glu51Ter
NM_001354800.1:c.150dup NP_001341729.1:p.Glu51Ter
NM_033507.2:c.153dup NP_277042.1:p.Glu52Ter
NM_033508.2:c.147dup NP_277043.1:p.Glu50Ter
NM_000162.5:c.150dup MANE Select NP_000153.1:p.Glu51Ter
NM_033507.3:c.153dup NP_277042.1:p.Glu52Ter
NM_033508.3:c.147dup NP_277043.1:p.Glu50Ter
Search 100 bp 5'
Search 100 bp 3'