Canonical Allele Identifier: CA2830782478
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151063del , CM000669.2:g.44151063del GRCh38
NC_000007.13:g.44190662del , CM000669.1:g.44190662del GRCh37
NC_000007.12:g.44157187del NCBI36
NG_008847.1:g.43361del
NG_008847.2:g.52108del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*374del ENSP00000379142.4:n.*374del
ENST00000616242.5:c.376del ENSP00000482149.2:p.Ile126SerfsTer14
ENST00000682635.1:n.862del
ENST00000345378.7:c.379del ENSP00000223366.2:p.Ile127SerfsTer14
ENST00000403799.8:c.376del MANE Select ENSP00000384247.3:p.Ile126SerfsTer14
ENST00000671824.1:c.376del ENSP00000500264.1:p.Ile126SerfsTer14
ENST00000673284.1:c.376del ENSP00000499852.1:p.Ile126SerfsTer14
ENST00000345378.6:c.379del ENSP00000223366.2:p.Ile127SerfsTer14
ENST00000395796.7:c.373del ENSP00000379142.3:p.Ile125SerfsTer14
ENST00000403799.7:c.376del ENSP00000384247.3:p.Ile126SerfsTer14
ENST00000437084.1:c.364-39del ENSP00000402840.1:n.364-39del
ENST00000616242.4:c.373del ENSP00000482149.1:p.Ile125SerfsTer14
NM_000162.3:c.376del NP_000153.1:p.Ile126SerfsTer14
NM_033507.1:c.379del NP_277042.1:p.Ile127SerfsTer14
NM_033508.1:c.373del NP_277043.1:p.Ile125SerfsTer14
NM_000162.4:c.376del NP_000153.1:p.Ile126SerfsTer14
NM_001354800.1:c.376del NP_001341729.1:p.Ile126SerfsTer14
NM_033507.2:c.379del NP_277042.1:p.Ile127SerfsTer14
NM_033508.2:c.373del NP_277043.1:p.Ile125SerfsTer14
NM_000162.5:c.376del MANE Select NP_000153.1:p.Ile126SerfsTer14
NM_033507.3:c.379del NP_277042.1:p.Ile127SerfsTer14
NM_033508.3:c.373del NP_277043.1:p.Ile125SerfsTer14
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