Canonical Allele Identifier: CA2573106064
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571644
ClinVar RCV Id: RCV003313354
ERepo: CA2573106064/MONDO:0007453/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145217_44145229del , CM000669.2:g.44145217_44145229del GRCh38
NC_000007.13:g.44184816_44184828del , CM000669.1:g.44184816_44184828del GRCh37
NC_000007.12:g.44151341_44151353del NCBI36
NG_008847.1:g.49197_49209del
NG_008847.2:g.57944_57956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1305_*1317del ENSP00000379142.4:n.*1305_*1317del
ENST00000616242.5:c.*427_*439del ENSP00000482149.2:n.*427_*439del
ENST00000683378.1:n.533_545del
ENST00000336642.9:c.341_353del ENSP00000338009.5:p.Ile114SerfsTer?
ENST00000345378.7:c.1310_1322del ENSP00000223366.2:p.Ile437SerfsTer?
ENST00000403799.8:c.1307_1319del MANE Select ENSP00000384247.3:p.Ile436SerfsTer?
ENST00000671824.1:c.1370_1382del ENSP00000500264.1:p.Ile457SerfsTer?
ENST00000672743.1:n.319_331del
ENST00000673284.1:c.1307_1319del ENSP00000499852.1:p.Ile436SerfsTer24
ENST00000336642.8:c.359_371del ENSP00000338009.4:p.Ile120SerfsTer?
ENST00000345378.6:c.1310_1322del ENSP00000223366.2:p.Ile437SerfsTer?
ENST00000395796.7:c.1304_1316del ENSP00000379142.3:p.Ile435SerfsTer?
ENST00000403799.7:c.1307_1319del ENSP00000384247.3:p.Ile436SerfsTer?
ENST00000437084.1:c.1256_1268del ENSP00000402840.1:p.Ile419SerfsTer?
ENST00000459642.1:n.687_699del
ENST00000616242.4:c.1304_1316del ENSP00000482149.1:p.Ile435SerfsTer?
NM_000162.3:c.1307_1319del NP_000153.1:p.Ile436SerfsTer?
NM_033507.1:c.1310_1322del NP_277042.1:p.Ile437SerfsTer?
NM_033508.1:c.1304_1316del NP_277043.1:p.Ile435SerfsTer?
NM_000162.4:c.1307_1319del NP_000153.1:p.Ile436SerfsTer?
NM_001354800.1:c.1307_1319del NP_001341729.1:p.Ile436SerfsTer24
NM_001354801.1:c.296_308del NP_001341730.1:p.Ile99SerfsTer?
NM_001354802.1:c.167_179del NP_001341731.1:p.Ile56SerfsTer24
NM_001354803.1:c.341_353del NP_001341732.1:p.Ile114SerfsTer?
NM_033507.2:c.1310_1322del NP_277042.1:p.Ile437SerfsTer?
NM_033508.2:c.1304_1316del NP_277043.1:p.Ile435SerfsTer?
XM_024446707.1:c.167_179del XP_024302475.1:p.Ile56SerfsTer?
NM_000162.5:c.1307_1319del MANE Select NP_000153.1:p.Ile436SerfsTer?
NM_033507.3:c.1310_1322del NP_277042.1:p.Ile437SerfsTer?
NM_033508.3:c.1304_1316del NP_277043.1:p.Ile435SerfsTer?
NM_001354803.2:c.341_353del NP_001341732.1:p.Ile114SerfsTer?
Search 100 bp 5'
Search 100 bp 3'