Canonical Allele Identifier: CA2580612099
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1303094
dbSNP Id: rs2128819209

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145582_44145584del , CM000669.2:g.44145582_44145584del GRCh38
NC_000007.13:g.44185181_44185183del , CM000669.1:g.44185181_44185183del GRCh37
NC_000007.12:g.44151706_44151708del NCBI36
NG_008847.1:g.48843_48845del
NG_008847.2:g.57590_57592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1167_*1169del ENSP00000379142.4:n.*1167_*1169del
ENST00000616242.5:c.*289_*291del ENSP00000482149.2:n.*289_*291del
ENST00000683378.1:n.395_397del
ENST00000336642.9:c.203_205del ENSP00000338009.5:p.Ile68del
ENST00000345378.7:c.1172_1174del ENSP00000223366.2:p.Ile391del
ENST00000403799.8:c.1169_1171del MANE Select ENSP00000384247.3:p.Ile390del
ENST00000671824.1:c.1232_1234del ENSP00000500264.1:p.Ile411del
ENST00000672743.1:n.181_183del
ENST00000673284.1:c.1169_1171del ENSP00000499852.1:p.Ile390del
ENST00000336642.8:c.221_223del ENSP00000338009.4:p.Ile74del
ENST00000345378.6:c.1172_1174del ENSP00000223366.2:p.Ile391del
ENST00000395796.7:c.1166_1168del ENSP00000379142.3:p.Ile389del
ENST00000403799.7:c.1169_1171del ENSP00000384247.3:p.Ile390del
ENST00000437084.1:c.1118_1120del ENSP00000402840.1:p.Ile373del
ENST00000459642.1:n.549_551del
ENST00000616242.4:c.1166_1168del ENSP00000482149.1:p.Ile389del
NM_000162.3:c.1169_1171del NP_000153.1:p.Ile390del
NM_033507.1:c.1172_1174del NP_277042.1:p.Ile391del
NM_033508.1:c.1166_1168del NP_277043.1:p.Ile389del
NM_000162.4:c.1169_1171del NP_000153.1:p.Ile390del
NM_001354800.1:c.1169_1171del NP_001341729.1:p.Ile390del
NM_001354801.1:c.158_160del NP_001341730.1:p.Ile53del
NM_001354802.1:c.29_31del NP_001341731.1:p.Ile10del
NM_001354803.1:c.203_205del NP_001341732.1:p.Ile68del
NM_033507.2:c.1172_1174del NP_277042.1:p.Ile391del
NM_033508.2:c.1166_1168del NP_277043.1:p.Ile389del
XM_024446707.1:c.29_31del XP_024302475.1:p.Ile10del
NM_000162.5:c.1169_1171del MANE Select NP_000153.1:p.Ile390del
NM_033507.3:c.1172_1174del NP_277042.1:p.Ile391del
NM_033508.3:c.1166_1168del NP_277043.1:p.Ile389del
NM_001354803.2:c.203_205del NP_001341732.1:p.Ile68del