Canonical Allele Identifier: CA2682581391
Gene: GCK HGNC NCBI

Linked Data

gnomAD v4: 7-44145567-CGCGCATGCGGTTGATGACGCCCGCCAGCCCCGCCGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145570_44145605del , CM000669.2:g.44145570_44145605del GRCh38
NC_000007.13:g.44185169_44185204del , CM000669.1:g.44185169_44185204del GRCh37
NC_000007.12:g.44151694_44151729del NCBI36
NG_008847.1:g.48821_48856del
NG_008847.2:g.57568_57603del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1145_*1180del ENSP00000379142.4:n.*1145_*1180del
ENST00000616242.5:c.*267_*302del ENSP00000482149.2:n.*267_*302del
ENST00000683378.1:n.373_408del
ENST00000336642.9:c.181_216del ENSP00000338009.5:p.Ser61_Arg72del
ENST00000345378.7:c.1150_1185del ENSP00000223366.2:p.Ser384_Arg395del
ENST00000403799.8:c.1147_1182del MANE Select ENSP00000384247.3:p.Ser383_Arg394del
ENST00000671824.1:c.1210_1245del ENSP00000500264.1:p.Ser404_Arg415del
ENST00000672743.1:n.159_194del
ENST00000673284.1:c.1147_1182del ENSP00000499852.1:p.Ser383_Arg394del
ENST00000336642.8:c.199_234del ENSP00000338009.4:p.Ser67_Arg78del
ENST00000345378.6:c.1150_1185del ENSP00000223366.2:p.Ser384_Arg395del
ENST00000395796.7:c.1144_1179del ENSP00000379142.3:p.Ser382_Arg393del
ENST00000403799.7:c.1147_1182del ENSP00000384247.3:p.Ser383_Arg394del
ENST00000437084.1:c.1096_1131del ENSP00000402840.1:p.Ser366_Arg377del
ENST00000459642.1:n.527_562del
ENST00000616242.4:c.1144_1179del ENSP00000482149.1:p.Ser382_Arg393del
NM_000162.3:c.1147_1182del NP_000153.1:p.Ser383_Arg394del
NM_033507.1:c.1150_1185del NP_277042.1:p.Ser384_Arg395del
NM_033508.1:c.1144_1179del NP_277043.1:p.Ser382_Arg393del
NM_000162.4:c.1147_1182del NP_000153.1:p.Ser383_Arg394del
NM_001354800.1:c.1147_1182del NP_001341729.1:p.Ser383_Arg394del
NM_001354801.1:c.136_171del NP_001341730.1:p.Ser46_Arg57del
NM_001354802.1:c.7_42del NP_001341731.1:p.Ser3_Arg14del
NM_001354803.1:c.181_216del NP_001341732.1:p.Ser61_Arg72del
NM_033507.2:c.1150_1185del NP_277042.1:p.Ser384_Arg395del
NM_033508.2:c.1144_1179del NP_277043.1:p.Ser382_Arg393del
XM_024446707.1:c.7_42del XP_024302475.1:p.Ser3_Arg14del
NM_000162.5:c.1147_1182del MANE Select NP_000153.1:p.Ser383_Arg394del
NM_033507.3:c.1150_1185del NP_277042.1:p.Ser384_Arg395del
NM_033508.3:c.1144_1179del NP_277043.1:p.Ser382_Arg393del
NM_001354803.2:c.181_216del NP_001341732.1:p.Ser61_Arg72del
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