Canonical Allele Identifier: CA2739289487
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145211del , CM000669.2:g.44145211del GRCh38
NC_000007.13:g.44184810del , CM000669.1:g.44184810del GRCh37
NC_000007.12:g.44151335del NCBI36
NG_008847.1:g.49214del
NG_008847.2:g.57961del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1322del ENSP00000379142.4:n.*1322del
ENST00000616242.5:c.*444del ENSP00000482149.2:n.*444del
ENST00000683378.1:n.550del
ENST00000336642.9:c.358del ENSP00000338009.5:p.Glu120ArgfsTer?
ENST00000345378.7:c.1327del ENSP00000223366.2:p.Glu443ArgfsTer?
ENST00000403799.8:c.1324del MANE Select ENSP00000384247.3:p.Glu442ArgfsTer?
ENST00000671824.1:c.1387del ENSP00000500264.1:p.Glu463ArgfsTer?
ENST00000672743.1:n.336del
ENST00000673284.1:c.1324del ENSP00000499852.1:p.Glu442ArgfsTer22
ENST00000336642.8:c.376del ENSP00000338009.4:p.Glu126ArgfsTer?
ENST00000345378.6:c.1327del ENSP00000223366.2:p.Glu443ArgfsTer?
ENST00000395796.7:c.1321del ENSP00000379142.3:p.Glu441ArgfsTer?
ENST00000403799.7:c.1324del ENSP00000384247.3:p.Glu442ArgfsTer?
ENST00000437084.1:c.1273del ENSP00000402840.1:p.Glu425ArgfsTer?
ENST00000459642.1:n.704del
ENST00000616242.4:c.1321del ENSP00000482149.1:p.Glu441ArgfsTer?
NM_000162.3:c.1324del NP_000153.1:p.Glu442ArgfsTer?
NM_033507.1:c.1327del NP_277042.1:p.Glu443ArgfsTer?
NM_033508.1:c.1321del NP_277043.1:p.Glu441ArgfsTer?
NM_000162.4:c.1324del NP_000153.1:p.Glu442ArgfsTer?
NM_001354800.1:c.1324del NP_001341729.1:p.Glu442ArgfsTer22
NM_001354801.1:c.313del NP_001341730.1:p.Glu105ArgfsTer?
NM_001354802.1:c.184del NP_001341731.1:p.Glu62ArgfsTer22
NM_001354803.1:c.358del NP_001341732.1:p.Glu120ArgfsTer?
NM_033507.2:c.1327del NP_277042.1:p.Glu443ArgfsTer?
NM_033508.2:c.1321del NP_277043.1:p.Glu441ArgfsTer?
XM_024446707.1:c.184del XP_024302475.1:p.Glu62ArgfsTer?
NM_000162.5:c.1324del MANE Select NP_000153.1:p.Glu442ArgfsTer?
NM_033507.3:c.1327del NP_277042.1:p.Glu443ArgfsTer?
NM_033508.3:c.1321del NP_277043.1:p.Glu441ArgfsTer?
NM_001354803.2:c.358del NP_001341732.1:p.Glu120ArgfsTer?