Canonical Allele Identifier: CA2695202966
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151013_44151015del , CM000669.2:g.44151013_44151015del GRCh38
NC_000007.13:g.44190612_44190614del , CM000669.1:g.44190612_44190614del GRCh37
NC_000007.12:g.44157137_44157139del NCBI36
NG_008847.1:g.43412_43414del
NG_008847.2:g.52159_52161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*425_*427del ENSP00000379142.4:n.*425_*427del
ENST00000616242.5:c.427_429del ENSP00000482149.2:p.Lys143del
ENST00000682635.1:n.913_915del
ENST00000345378.7:c.430_432del ENSP00000223366.2:p.Lys144del
ENST00000403799.8:c.427_429del MANE Select ENSP00000384247.3:p.Lys143del
ENST00000671824.1:c.427_429del ENSP00000500264.1:p.Lys143del
ENST00000673284.1:c.427_429del ENSP00000499852.1:p.Lys143del
ENST00000345378.6:c.430_432del ENSP00000223366.2:p.Lys144del
ENST00000395796.7:c.424_426del ENSP00000379142.3:p.Lys142del
ENST00000403799.7:c.427_429del ENSP00000384247.3:p.Lys143del
ENST00000437084.1:c.376_378del ENSP00000402840.1:p.Lys126del
ENST00000616242.4:c.424_426del ENSP00000482149.1:p.Lys142del
NM_000162.3:c.427_429del NP_000153.1:p.Lys143del
NM_033507.1:c.430_432del NP_277042.1:p.Lys144del
NM_033508.1:c.424_426del NP_277043.1:p.Lys142del
NM_000162.4:c.427_429del NP_000153.1:p.Lys143del
NM_001354800.1:c.427_429del NP_001341729.1:p.Lys143del
NM_033507.2:c.430_432del NP_277042.1:p.Lys144del
NM_033508.2:c.424_426del NP_277043.1:p.Lys142del
NM_000162.5:c.427_429del MANE Select NP_000153.1:p.Lys143del
NM_033507.3:c.430_432del NP_277042.1:p.Lys144del
NM_033508.3:c.424_426del NP_277043.1:p.Lys142del
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