Canonical Allele Identifier: CA2695202974
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151057del , CM000669.2:g.44151057del GRCh38
NC_000007.13:g.44190656del , CM000669.1:g.44190656del GRCh37
NC_000007.12:g.44157181del NCBI36
NG_008847.1:g.43367del
NG_008847.2:g.52114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*380del ENSP00000379142.4:n.*380del
ENST00000616242.5:c.382del ENSP00000482149.2:p.Glu128SerfsTer12
ENST00000682635.1:n.868del
ENST00000345378.7:c.385del ENSP00000223366.2:p.Glu129SerfsTer12
ENST00000403799.8:c.382del MANE Select ENSP00000384247.3:p.Glu128SerfsTer12
ENST00000671824.1:c.382del ENSP00000500264.1:p.Glu128SerfsTer12
ENST00000673284.1:c.382del ENSP00000499852.1:p.Glu128SerfsTer12
ENST00000345378.6:c.385del ENSP00000223366.2:p.Glu129SerfsTer12
ENST00000395796.7:c.379del ENSP00000379142.3:p.Glu127SerfsTer12
ENST00000403799.7:c.382del ENSP00000384247.3:p.Glu128SerfsTer12
ENST00000437084.1:c.364-33del ENSP00000402840.1:n.364-33del
ENST00000616242.4:c.379del ENSP00000482149.1:p.Glu127SerfsTer12
NM_000162.3:c.382del NP_000153.1:p.Glu128SerfsTer12
NM_033507.1:c.385del NP_277042.1:p.Glu129SerfsTer12
NM_033508.1:c.379del NP_277043.1:p.Glu127SerfsTer12
NM_000162.4:c.382del NP_000153.1:p.Glu128SerfsTer12
NM_001354800.1:c.382del NP_001341729.1:p.Glu128SerfsTer12
NM_033507.2:c.385del NP_277042.1:p.Glu129SerfsTer12
NM_033508.2:c.379del NP_277043.1:p.Glu127SerfsTer12
NM_000162.5:c.382del MANE Select NP_000153.1:p.Glu128SerfsTer12
NM_033507.3:c.385del NP_277042.1:p.Glu129SerfsTer12
NM_033508.3:c.379del NP_277043.1:p.Glu127SerfsTer12
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