Canonical Allele Identifier: CA2695203067
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146551_44146552del , CM000669.2:g.44146551_44146552del GRCh38
NC_000007.13:g.44186150_44186151del , CM000669.1:g.44186150_44186151del GRCh37
NC_000007.12:g.44152675_44152676del NCBI36
NG_008847.1:g.47872_47873del
NG_008847.2:g.56619_56620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*928_*929del ENSP00000379142.4:n.*928_*929del
ENST00000616242.5:c.*50_*51del ENSP00000482149.2:n.*50_*51del
ENST00000683378.1:n.156_157del
ENST00000345378.7:c.933_934del ENSP00000223366.2:p.Asp312ArgfsTer?
ENST00000403799.8:c.930_931del MANE Select ENSP00000384247.3:p.Asp311ArgfsTer?
ENST00000671824.1:c.993_994del ENSP00000500264.1:p.Asp332ArgfsTer?
ENST00000673284.1:c.930_931del ENSP00000499852.1:p.Asp311ArgfsTer?
ENST00000345378.6:c.933_934del ENSP00000223366.2:p.Asp312ArgfsTer?
ENST00000395796.7:c.927_928del ENSP00000379142.3:p.Asp310ArgfsTer?
ENST00000403799.7:c.930_931del ENSP00000384247.3:p.Asp311ArgfsTer?
ENST00000437084.1:c.879_880del ENSP00000402840.1:p.Asp294ArgfsTer?
ENST00000473353.1:n.228_229del
ENST00000616242.4:c.927_928del ENSP00000482149.1:p.Asp310ArgfsTer?
NM_000162.3:c.930_931del NP_000153.1:p.Asp311ArgfsTer?
NM_033507.1:c.933_934del NP_277042.1:p.Asp312ArgfsTer?
NM_033508.1:c.927_928del NP_277043.1:p.Asp310ArgfsTer?
NM_000162.4:c.930_931del NP_000153.1:p.Asp311ArgfsTer?
NM_001354800.1:c.930_931del NP_001341729.1:p.Asp311ArgfsTer?
NM_001354801.1:c.8+67_8+68del NP_001341730.1:n.8+67_8+68del
NM_033507.2:c.933_934del NP_277042.1:p.Asp312ArgfsTer?
NM_033508.2:c.927_928del NP_277043.1:p.Asp310ArgfsTer?
NM_000162.5:c.930_931del MANE Select NP_000153.1:p.Asp311ArgfsTer?
NM_033507.3:c.933_934del NP_277042.1:p.Asp312ArgfsTer?
NM_033508.3:c.927_928del NP_277043.1:p.Asp310ArgfsTer?