Canonical Allele Identifier: CA2695203123
Gene: GCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147822del , CM000669.2:g.44147822del GRCh38
NC_000007.13:g.44187421del , CM000669.1:g.44187421del GRCh37
NC_000007.12:g.44153946del NCBI36
NG_008847.1:g.46603del
NG_008847.2:g.55350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*690del ENSP00000379142.4:n.*690del
ENST00000616242.5:c.692del ENSP00000482149.2:p.Asn231MetfsTer?
ENST00000345378.7:c.695del ENSP00000223366.2:p.Asn232MetfsTer?
ENST00000403799.8:c.692del MANE Select ENSP00000384247.3:p.Asn231MetfsTer?
ENST00000671824.1:c.692del ENSP00000500264.1:p.Asn231MetfsTer?
ENST00000673284.1:c.692del ENSP00000499852.1:p.Asn231MetfsTer?
ENST00000345378.6:c.695del ENSP00000223366.2:p.Asn232MetfsTer?
ENST00000395796.7:c.689del ENSP00000379142.3:p.Asn230MetfsTer?
ENST00000403799.7:c.692del ENSP00000384247.3:p.Asn231MetfsTer?
ENST00000437084.1:c.641del ENSP00000402840.1:p.Asn214MetfsTer?
ENST00000616242.4:c.689del ENSP00000482149.1:p.Asn230MetfsTer?
NM_000162.3:c.692del NP_000153.1:p.Asn231MetfsTer?
NM_033507.1:c.695del NP_277042.1:p.Asn232MetfsTer?
NM_033508.1:c.689del NP_277043.1:p.Asn230MetfsTer?
XR_927223.1:n.82+74del
NM_000162.4:c.692del NP_000153.1:p.Asn231MetfsTer?
NM_001354800.1:c.692del NP_001341729.1:p.Asn231MetfsTer?
NM_033507.2:c.695del NP_277042.1:p.Asn232MetfsTer?
NM_033508.2:c.689del NP_277043.1:p.Asn230MetfsTer?
XR_927223.2:n.82+74del
NM_000162.5:c.692del MANE Select NP_000153.1:p.Asn231MetfsTer?
NM_033507.3:c.695del NP_277042.1:p.Asn232MetfsTer?
NM_033508.3:c.689del NP_277043.1:p.Asn230MetfsTer?
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