Canonical Allele Identifier: CA213762
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36201
ClinVar RCV Id: RCV000029864 RCV002287346 RCV003325946
dbSNP Id: rs193922284
MyVariant Identifiers: chr7:g.44184760_44184761del (hg19) chr7:g.44145161_44145162del (hg38)
ERepo: CA213762/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145161_44145162del , CM000669.2:g.44145161_44145162del GRCh38
NC_000007.13:g.44184760_44184761del , CM000669.1:g.44184760_44184761del GRCh37
NC_000007.12:g.44151285_44151286del NCBI36
NG_008847.1:g.49262_49263del
NG_008847.2:g.58009_58010del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1370_*1371del ENSP00000379142.4:n.*1370_*1371del
ENST00000616242.5:c.*492_*493del ENSP00000482149.2:n.*492_*493del
ENST00000683378.1:n.598_599del
ENST00000336642.9:c.406_407del ENSP00000338009.5:p.Lys136GlufsTer?
ENST00000345378.7:c.1375_1376del ENSP00000223366.2:p.Lys459GlufsTer?
ENST00000403799.8:c.1372_1373del MANE Select ENSP00000384247.3:p.Lys458GlufsTer?
ENST00000671824.1:c.1435_1436del ENSP00000500264.1:p.Lys479GlufsTer?
ENST00000672743.1:n.381+3_381+4del
ENST00000673284.1:c.1369+3_1369+4del ENSP00000499852.1:n.1369+3_1369+4del
ENST00000336642.8:c.424_425del ENSP00000338009.4:p.Lys142GlufsTer?
ENST00000345378.6:c.1375_1376del ENSP00000223366.2:p.Lys459GlufsTer?
ENST00000395796.7:c.1369_1370del ENSP00000379142.3:p.Lys457GlufsTer?
ENST00000403799.7:c.1372_1373del ENSP00000384247.3:p.Lys458GlufsTer?
ENST00000437084.1:c.1321_1322del ENSP00000402840.1:p.Lys441GlufsTer?
ENST00000459642.1:n.752_753del
ENST00000616242.4:c.1369_1370del ENSP00000482149.1:p.Lys457GlufsTer?
NM_000162.3:c.1372_1373del NP_000153.1:p.Lys458GlufsTer?
NM_033507.1:c.1375_1376del NP_277042.1:p.Lys459GlufsTer?
NM_033508.1:c.1369_1370del NP_277043.1:p.Lys457GlufsTer?
NM_000162.4:c.1372_1373del NP_000153.1:p.Lys458GlufsTer?
NM_001354800.1:c.1369+3_1369+4del NP_001341729.1:n.1369+3_1369+4del
NM_001354801.1:c.361_362del NP_001341730.1:p.Lys121GlufsTer?
NM_001354802.1:c.229+3_229+4del NP_001341731.1:n.229+3_229+4del
NM_001354803.1:c.406_407del NP_001341732.1:p.Lys136GlufsTer?
NM_033507.2:c.1375_1376del NP_277042.1:p.Lys459GlufsTer?
NM_033508.2:c.1369_1370del NP_277043.1:p.Lys457GlufsTer?
XM_024446707.1:c.232_233del XP_024302475.1:p.Lys78GlufsTer?
NM_000162.5:c.1372_1373del MANE Select NP_000153.1:p.Lys458GlufsTer?
NM_033507.3:c.1375_1376del NP_277042.1:p.Lys459GlufsTer?
NM_033508.3:c.1369_1370del NP_277043.1:p.Lys457GlufsTer?
NM_001354803.2:c.406_407del NP_001341732.1:p.Lys136GlufsTer?
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