Canonical Allele Identifier: CA2682580402
Gene: GCK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145182del , CM000669.2:g.44145182del GRCh38
NC_000007.13:g.44184781del , CM000669.1:g.44184781del GRCh37
NC_000007.12:g.44151306del NCBI36
NG_008847.1:g.49242del
NG_008847.2:g.57989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1350del ENSP00000379142.4:n.*1350del
ENST00000616242.5:c.*472del ENSP00000482149.2:n.*472del
ENST00000683378.1:n.578del
ENST00000336642.9:c.386del ENSP00000338009.5:p.Leu129ArgfsTer?
ENST00000345378.7:c.1355del ENSP00000223366.2:p.Leu452ArgfsTer?
ENST00000403799.8:c.1352del MANE Select ENSP00000384247.3:p.Leu451ArgfsTer?
ENST00000671824.1:c.1415del ENSP00000500264.1:p.Leu472ArgfsTer?
ENST00000672743.1:n.364del
ENST00000673284.1:c.1352del ENSP00000499852.1:p.Leu451ArgfsTer13
ENST00000336642.8:c.404del ENSP00000338009.4:p.Leu135ArgfsTer?
ENST00000345378.6:c.1355del ENSP00000223366.2:p.Leu452ArgfsTer?
ENST00000395796.7:c.1349del ENSP00000379142.3:p.Leu450ArgfsTer?
ENST00000403799.7:c.1352del ENSP00000384247.3:p.Leu451ArgfsTer?
ENST00000437084.1:c.1301del ENSP00000402840.1:p.Leu434ArgfsTer?
ENST00000459642.1:n.732del
ENST00000616242.4:c.1349del ENSP00000482149.1:p.Leu450ArgfsTer?
NM_000162.3:c.1352del NP_000153.1:p.Leu451ArgfsTer?
NM_033507.1:c.1355del NP_277042.1:p.Leu452ArgfsTer?
NM_033508.1:c.1349del NP_277043.1:p.Leu450ArgfsTer?
NM_000162.4:c.1352del NP_000153.1:p.Leu451ArgfsTer?
NM_001354800.1:c.1352del NP_001341729.1:p.Leu451ArgfsTer13
NM_001354801.1:c.341del NP_001341730.1:p.Leu114ArgfsTer?
NM_001354802.1:c.212del NP_001341731.1:p.Leu71ArgfsTer13
NM_001354803.1:c.386del NP_001341732.1:p.Leu129ArgfsTer?
NM_033507.2:c.1355del NP_277042.1:p.Leu452ArgfsTer?
NM_033508.2:c.1349del NP_277043.1:p.Leu450ArgfsTer?
XM_024446707.1:c.212del XP_024302475.1:p.Leu71ArgfsTer?
NM_000162.5:c.1352del MANE Select NP_000153.1:p.Leu451ArgfsTer?
NM_033507.3:c.1355del NP_277042.1:p.Leu452ArgfsTer?
NM_033508.3:c.1349del NP_277043.1:p.Leu450ArgfsTer?
NM_001354803.2:c.386del NP_001341732.1:p.Leu129ArgfsTer?