Canonical Allele Identifier: CA2682580572
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145222del , CM000669.2:g.44145222del GRCh38
NC_000007.13:g.44184821del , CM000669.1:g.44184821del GRCh37
NC_000007.12:g.44151346del NCBI36
NG_008847.1:g.49203del
NG_008847.2:g.57950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1311del ENSP00000379142.4:n.*1311del
ENST00000616242.5:c.*433del ENSP00000482149.2:n.*433del
ENST00000683378.1:n.539del
ENST00000336642.9:c.347del ENSP00000338009.5:p.Phe116SerfsTer?
ENST00000345378.7:c.1316del ENSP00000223366.2:p.Phe439SerfsTer?
ENST00000403799.8:c.1313del MANE Select ENSP00000384247.3:p.Phe438SerfsTer?
ENST00000671824.1:c.1376del ENSP00000500264.1:p.Phe459SerfsTer?
ENST00000672743.1:n.325del
ENST00000673284.1:c.1313del ENSP00000499852.1:p.Phe438SerfsTer26
ENST00000336642.8:c.365del ENSP00000338009.4:p.Phe122SerfsTer?
ENST00000345378.6:c.1316del ENSP00000223366.2:p.Phe439SerfsTer?
ENST00000395796.7:c.1310del ENSP00000379142.3:p.Phe437SerfsTer?
ENST00000403799.7:c.1313del ENSP00000384247.3:p.Phe438SerfsTer?
ENST00000437084.1:c.1262del ENSP00000402840.1:p.Phe421SerfsTer?
ENST00000459642.1:n.693del
ENST00000616242.4:c.1310del ENSP00000482149.1:p.Phe437SerfsTer?
NM_000162.3:c.1313del NP_000153.1:p.Phe438SerfsTer?
NM_033507.1:c.1316del NP_277042.1:p.Phe439SerfsTer?
NM_033508.1:c.1310del NP_277043.1:p.Phe437SerfsTer?
NM_000162.4:c.1313del NP_000153.1:p.Phe438SerfsTer?
NM_001354800.1:c.1313del NP_001341729.1:p.Phe438SerfsTer26
NM_001354801.1:c.302del NP_001341730.1:p.Phe101SerfsTer?
NM_001354802.1:c.173del NP_001341731.1:p.Phe58SerfsTer26
NM_001354803.1:c.347del NP_001341732.1:p.Phe116SerfsTer?
NM_033507.2:c.1316del NP_277042.1:p.Phe439SerfsTer?
NM_033508.2:c.1310del NP_277043.1:p.Phe437SerfsTer?
XM_024446707.1:c.173del XP_024302475.1:p.Phe58SerfsTer?
NM_000162.5:c.1313del MANE Select NP_000153.1:p.Phe438SerfsTer?
NM_033507.3:c.1316del NP_277042.1:p.Phe439SerfsTer?
NM_033508.3:c.1310del NP_277043.1:p.Phe437SerfsTer?
NM_001354803.2:c.347del NP_001341732.1:p.Phe116SerfsTer?