Canonical Allele Identifier: CA2695203112
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147778dup , CM000669.2:g.44147778dup GRCh38
NC_000007.13:g.44187377dup , CM000669.1:g.44187377dup GRCh37
NC_000007.12:g.44153902dup NCBI36
NG_008847.1:g.46650dup
NG_008847.2:g.55397dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*737dup ENSP00000379142.4:n.*737dup
ENST00000616242.5:c.739dup ENSP00000482149.2:p.Asp247GlyfsTer28
ENST00000345378.7:c.742dup ENSP00000223366.2:p.Asp248GlyfsTer28
ENST00000403799.8:c.739dup MANE Select ENSP00000384247.3:p.Asp247GlyfsTer28
ENST00000671824.1:c.739dup ENSP00000500264.1:p.Asp247GlyfsTer28
ENST00000673284.1:c.739dup ENSP00000499852.1:p.Asp247GlyfsTer28
ENST00000345378.6:c.742dup ENSP00000223366.2:p.Asp248GlyfsTer28
ENST00000395796.7:c.736dup ENSP00000379142.3:p.Asp246GlyfsTer28
ENST00000403799.7:c.739dup ENSP00000384247.3:p.Asp247GlyfsTer28
ENST00000437084.1:c.688dup ENSP00000402840.1:p.Asp230GlyfsTer28
ENST00000616242.4:c.736dup ENSP00000482149.1:p.Asp246GlyfsTer28
NM_000162.3:c.739dup NP_000153.1:p.Asp247GlyfsTer28
NM_033507.1:c.742dup NP_277042.1:p.Asp248GlyfsTer28
NM_033508.1:c.736dup NP_277043.1:p.Asp246GlyfsTer28
XR_927223.1:n.82+30dup
NM_000162.4:c.739dup NP_000153.1:p.Asp247GlyfsTer28
NM_001354800.1:c.739dup NP_001341729.1:p.Asp247GlyfsTer28
NM_033507.2:c.742dup NP_277042.1:p.Asp248GlyfsTer28
NM_033508.2:c.736dup NP_277043.1:p.Asp246GlyfsTer28
XR_927223.2:n.82+30dup
NM_000162.5:c.739dup MANE Select NP_000153.1:p.Asp247GlyfsTer28
NM_033507.3:c.742dup NP_277042.1:p.Asp248GlyfsTer28
NM_033508.3:c.736dup NP_277043.1:p.Asp246GlyfsTer28
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