Canonical Allele Identifier: CA2739299251
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146531del , CM000669.2:g.44146531del GRCh38
NC_000007.13:g.44186130del , CM000669.1:g.44186130del GRCh37
NC_000007.12:g.44152655del NCBI36
NG_008847.1:g.47893del
NG_008847.2:g.56640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*949del ENSP00000379142.4:n.*949del
ENST00000616242.5:c.*71del ENSP00000482149.2:n.*71del
ENST00000683378.1:n.177del
ENST00000345378.7:c.954del ENSP00000223366.2:p.His318GlnfsTer?
ENST00000403799.8:c.951del MANE Select ENSP00000384247.3:p.His317GlnfsTer?
ENST00000671824.1:c.1014del ENSP00000500264.1:p.His338GlnfsTer?
ENST00000673284.1:c.951del ENSP00000499852.1:p.His317GlnfsTer?
ENST00000345378.6:c.954del ENSP00000223366.2:p.His318GlnfsTer?
ENST00000395796.7:c.948del ENSP00000379142.3:p.His316GlnfsTer?
ENST00000403799.7:c.951del ENSP00000384247.3:p.His317GlnfsTer?
ENST00000437084.1:c.900del ENSP00000402840.1:p.His300GlnfsTer?
ENST00000473353.1:n.249del
ENST00000616242.4:c.948del ENSP00000482149.1:p.His316GlnfsTer?
NM_000162.3:c.951del NP_000153.1:p.His317GlnfsTer?
NM_033507.1:c.954del NP_277042.1:p.His318GlnfsTer?
NM_033508.1:c.948del NP_277043.1:p.His316GlnfsTer?
NM_000162.4:c.951del NP_000153.1:p.His317GlnfsTer?
NM_001354800.1:c.951del NP_001341729.1:p.His317GlnfsTer?
NM_001354801.1:c.8+88del NP_001341730.1:n.8+88del
NM_033507.2:c.954del NP_277042.1:p.His318GlnfsTer?
NM_033508.2:c.948del NP_277043.1:p.His316GlnfsTer?
NM_000162.5:c.951del MANE Select NP_000153.1:p.His317GlnfsTer?
NM_033507.3:c.954del NP_277042.1:p.His318GlnfsTer?
NM_033508.3:c.948del NP_277043.1:p.His316GlnfsTer?