Canonical Allele Identifier: CA2697557239
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2698504
ClinVar RCV Id: RCV003551796
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145225_44145239del , CM000669.2:g.44145225_44145239del GRCh38
NC_000007.13:g.44184824_44184838del , CM000669.1:g.44184824_44184838del GRCh37
NC_000007.12:g.44151349_44151363del NCBI36
NG_008847.1:g.49187_49201del
NG_008847.2:g.57934_57948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1295_*1309del ENSP00000379142.4:n.*1295_*1309del
ENST00000616242.5:c.*417_*431del ENSP00000482149.2:n.*417_*431del
ENST00000683378.1:n.523_537del
ENST00000336642.9:c.331_345del ENSP00000338009.5:p.Ser111_Thr115del
ENST00000345378.7:c.1300_1314del ENSP00000223366.2:p.Ser434_Thr438del
ENST00000403799.8:c.1297_1311del MANE Select ENSP00000384247.3:p.Ser433_Thr437del
ENST00000671824.1:c.1360_1374del ENSP00000500264.1:p.Ser454_Thr458del
ENST00000672743.1:n.309_323del
ENST00000673284.1:c.1297_1311del ENSP00000499852.1:p.Ser433_Thr437del
ENST00000336642.8:c.349_363del ENSP00000338009.4:p.Ser117_Thr121del
ENST00000345378.6:c.1300_1314del ENSP00000223366.2:p.Ser434_Thr438del
ENST00000395796.7:c.1294_1308del ENSP00000379142.3:p.Ser432_Thr436del
ENST00000403799.7:c.1297_1311del ENSP00000384247.3:p.Ser433_Thr437del
ENST00000437084.1:c.1246_1260del ENSP00000402840.1:p.Ser416_Thr420del
ENST00000459642.1:n.677_691del
ENST00000616242.4:c.1294_1308del ENSP00000482149.1:p.Ser432_Thr436del
NM_000162.3:c.1297_1311del NP_000153.1:p.Ser433_Thr437del
NM_033507.1:c.1300_1314del NP_277042.1:p.Ser434_Thr438del
NM_033508.1:c.1294_1308del NP_277043.1:p.Ser432_Thr436del
NM_000162.4:c.1297_1311del NP_000153.1:p.Ser433_Thr437del
NM_001354800.1:c.1297_1311del NP_001341729.1:p.Ser433_Thr437del
NM_001354801.1:c.286_300del NP_001341730.1:p.Ser96_Thr100del
NM_001354802.1:c.157_171del NP_001341731.1:p.Ser53_Thr57del
NM_001354803.1:c.331_345del NP_001341732.1:p.Ser111_Thr115del
NM_033507.2:c.1300_1314del NP_277042.1:p.Ser434_Thr438del
NM_033508.2:c.1294_1308del NP_277043.1:p.Ser432_Thr436del
XM_024446707.1:c.157_171del XP_024302475.1:p.Ser53_Thr57del
NM_000162.5:c.1297_1311del MANE Select NP_000153.1:p.Ser433_Thr437del
NM_033507.3:c.1300_1314del NP_277042.1:p.Ser434_Thr438del
NM_033508.3:c.1294_1308del NP_277043.1:p.Ser432_Thr436del
NM_001354803.2:c.331_345del NP_001341732.1:p.Ser111_Thr115del
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