Canonical Allele Identifier: CA2531791184
Gene: GCK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145720del , CM000669.2:g.44145720del GRCh38
NC_000007.13:g.44185319del , CM000669.1:g.44185319del GRCh37
NC_000007.12:g.44151844del NCBI36
NG_008847.1:g.48704del
NG_008847.2:g.57451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1028del ENSP00000379142.4:n.*1028del
ENST00000616242.5:c.*150del ENSP00000482149.2:n.*150del
ENST00000683378.1:n.256del
ENST00000336642.9:c.64del ENSP00000338009.5:p.Asp22ThrfsTer9
ENST00000345378.7:c.1033del ENSP00000223366.2:p.Asp345ThrfsTer9
ENST00000403799.8:c.1030del MANE Select ENSP00000384247.3:p.Asp344ThrfsTer9
ENST00000671824.1:c.1093del ENSP00000500264.1:p.Asp365ThrfsTer9
ENST00000672743.1:n.42del
ENST00000673284.1:c.1030del ENSP00000499852.1:p.Asp344ThrfsTer9
ENST00000336642.8:c.82del ENSP00000338009.4:p.Asp28ThrfsTer9
ENST00000345378.6:c.1033del ENSP00000223366.2:p.Asp345ThrfsTer9
ENST00000395796.7:c.1027del ENSP00000379142.3:p.Asp343ThrfsTer9
ENST00000403799.7:c.1030del ENSP00000384247.3:p.Asp344ThrfsTer9
ENST00000437084.1:c.979del ENSP00000402840.1:p.Asp327ThrfsTer9
ENST00000459642.1:n.410del
ENST00000473353.1:n.328del
ENST00000616242.4:c.1027del ENSP00000482149.1:p.Asp343ThrfsTer9
NM_000162.3:c.1030del NP_000153.1:p.Asp344ThrfsTer9
NM_033507.1:c.1033del NP_277042.1:p.Asp345ThrfsTer9
NM_033508.1:c.1027del NP_277043.1:p.Asp343ThrfsTer9
NM_000162.4:c.1030del NP_000153.1:p.Asp344ThrfsTer9
NM_001354800.1:c.1030del NP_001341729.1:p.Asp344ThrfsTer9
NM_001354801.1:c.19del NP_001341730.1:p.Asp7ThrfsTer9
NM_001354802.1:c.-111del NP_001341731.1:n.-111del
NM_001354803.1:c.64del NP_001341732.1:p.Asp22ThrfsTer9
NM_033507.2:c.1033del NP_277042.1:p.Asp345ThrfsTer9
NM_033508.2:c.1027del NP_277043.1:p.Asp343ThrfsTer9
XM_024446707.1:c.-111del XP_024302475.1:n.-111del
NM_000162.5:c.1030del MANE Select NP_000153.1:p.Asp344ThrfsTer9
NM_033507.3:c.1033del NP_277042.1:p.Asp345ThrfsTer9
NM_033508.3:c.1027del NP_277043.1:p.Asp343ThrfsTer9
NM_001354803.2:c.64del NP_001341732.1:p.Asp22ThrfsTer9