Canonical Allele Identifier: CA2695203136
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44149842del , CM000669.2:g.44149842del GRCh38
NC_000007.13:g.44189441del , CM000669.1:g.44189441del GRCh37
NC_000007.12:g.44155966del NCBI36
NG_008847.1:g.44583del
NG_008847.2:g.53330del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*596del ENSP00000379142.4:n.*596del
ENST00000616242.5:c.598del ENSP00000482149.2:p.Val200TrpfsTer4
ENST00000682635.1:n.1084del
ENST00000345378.7:c.601del ENSP00000223366.2:p.Val201TrpfsTer4
ENST00000403799.8:c.598del MANE Select ENSP00000384247.3:p.Val200TrpfsTer4
ENST00000671824.1:c.598del ENSP00000500264.1:p.Val200TrpfsTer4
ENST00000673284.1:c.598del ENSP00000499852.1:p.Val200TrpfsTer4
ENST00000345378.6:c.601del ENSP00000223366.2:p.Val201TrpfsTer4
ENST00000395796.7:c.595del ENSP00000379142.3:p.Val199TrpfsTer4
ENST00000403799.7:c.598del ENSP00000384247.3:p.Val200TrpfsTer4
ENST00000437084.1:c.547del ENSP00000402840.1:p.Val183TrpfsTer4
ENST00000616242.4:c.595del ENSP00000482149.1:p.Val199TrpfsTer4
NM_000162.3:c.598del NP_000153.1:p.Val200TrpfsTer4
NM_033507.1:c.601del NP_277042.1:p.Val201TrpfsTer4
NM_033508.1:c.595del NP_277043.1:p.Val199TrpfsTer4
NM_000162.4:c.598del NP_000153.1:p.Val200TrpfsTer4
NM_001354800.1:c.598del NP_001341729.1:p.Val200TrpfsTer4
NM_033507.2:c.601del NP_277042.1:p.Val201TrpfsTer4
NM_033508.2:c.595del NP_277043.1:p.Val199TrpfsTer4
NM_000162.5:c.598del MANE Select NP_000153.1:p.Val200TrpfsTer4
NM_033507.3:c.601del NP_277042.1:p.Val201TrpfsTer4
NM_033508.3:c.595del NP_277043.1:p.Val199TrpfsTer4