Canonical Allele Identifier: CA1139660056
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 973191
dbSNP Id: rs2096271597

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145602del , CM000669.2:g.44145602del GRCh38
NC_000007.13:g.44185201del , CM000669.1:g.44185201del GRCh37
NC_000007.12:g.44151726del NCBI36
NG_008847.1:g.48822del
NG_008847.2:g.57569del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1146del ENSP00000379142.4:n.*1146del
ENST00000616242.5:c.*268del ENSP00000482149.2:n.*268del
ENST00000683378.1:n.374del
ENST00000336642.9:c.182del ENSP00000338009.5:p.Ser61TrpfsTer19
ENST00000345378.7:c.1151del ENSP00000223366.2:p.Ser384TrpfsTer19
ENST00000403799.8:c.1148del MANE Select ENSP00000384247.3:p.Ser383TrpfsTer19
ENST00000671824.1:c.1211del ENSP00000500264.1:p.Ser404TrpfsTer19
ENST00000672743.1:n.160del
ENST00000673284.1:c.1148del ENSP00000499852.1:p.Ser383TrpfsTer19
ENST00000336642.8:c.200del ENSP00000338009.4:p.Ser67TrpfsTer19
ENST00000345378.6:c.1151del ENSP00000223366.2:p.Ser384TrpfsTer19
ENST00000395796.7:c.1145del ENSP00000379142.3:p.Ser382TrpfsTer19
ENST00000403799.7:c.1148del ENSP00000384247.3:p.Ser383TrpfsTer19
ENST00000437084.1:c.1097del ENSP00000402840.1:p.Ser366TrpfsTer19
ENST00000459642.1:n.528del
ENST00000616242.4:c.1145del ENSP00000482149.1:p.Ser382TrpfsTer19
NM_000162.3:c.1148del NP_000153.1:p.Ser383TrpfsTer19
NM_033507.1:c.1151del NP_277042.1:p.Ser384TrpfsTer19
NM_033508.1:c.1145del NP_277043.1:p.Ser382TrpfsTer19
NM_000162.4:c.1148del NP_000153.1:p.Ser383TrpfsTer19
NM_001354800.1:c.1148del NP_001341729.1:p.Ser383TrpfsTer19
NM_001354801.1:c.137del NP_001341730.1:p.Ser46TrpfsTer19
NM_001354802.1:c.8del NP_001341731.1:p.Ser3TrpfsTer19
NM_001354803.1:c.182del NP_001341732.1:p.Ser61TrpfsTer19
NM_033507.2:c.1151del NP_277042.1:p.Ser384TrpfsTer19
NM_033508.2:c.1145del NP_277043.1:p.Ser382TrpfsTer19
XM_024446707.1:c.8del XP_024302475.1:p.Ser3TrpfsTer19
NM_000162.5:c.1148del MANE Select NP_000153.1:p.Ser383TrpfsTer19
NM_033507.3:c.1151del NP_277042.1:p.Ser384TrpfsTer19
NM_033508.3:c.1145del NP_277043.1:p.Ser382TrpfsTer19
NM_001354803.2:c.182del NP_001341732.1:p.Ser61TrpfsTer19