Canonical Allele Identifier: CA1139660051
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 995104
ClinVar RCV Id: RCV001288978 RCV002287492 RCV003399058
dbSNP Id: rs2096270423
ERepo: CA1139660051/MONDO:0007453/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145175_44145253del , CM000669.2:g.44145175_44145253del GRCh38
NC_000007.13:g.44184774_44184852del , CM000669.1:g.44184774_44184852del GRCh37
NC_000007.12:g.44151299_44151377del NCBI36
NG_008847.1:g.49174_49252del
NG_008847.2:g.57921_57999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1282_*1360del ENSP00000379142.4:n.*1282_*1360del
ENST00000616242.5:c.*404_*482del ENSP00000482149.2:n.*404_*482del
ENST00000683378.1:n.510_588del
ENST00000336642.9:c.318_396del ENSP00000338009.5:p.Arg107TrpfsTer?
ENST00000345378.7:c.1287_1365del ENSP00000223366.2:p.Arg430TrpfsTer?
ENST00000403799.8:c.1284_1362del MANE Select ENSP00000384247.3:p.Arg429TrpfsTer?
ENST00000671824.1:c.1347_1425del ENSP00000500264.1:p.Arg450TrpfsTer?
ENST00000672743.1:n.296_374del
ENST00000673284.1:c.1284_1362del ENSP00000499852.1:p.Arg429TrpfsTer9
ENST00000336642.8:c.336_414del ENSP00000338009.4:p.Arg113TrpfsTer?
ENST00000345378.6:c.1287_1365del ENSP00000223366.2:p.Arg430TrpfsTer?
ENST00000395796.7:c.1281_1359del ENSP00000379142.3:p.Arg428TrpfsTer?
ENST00000403799.7:c.1284_1362del ENSP00000384247.3:p.Arg429TrpfsTer?
ENST00000437084.1:c.1233_1311del ENSP00000402840.1:p.Arg412TrpfsTer?
ENST00000459642.1:n.664_742del
ENST00000616242.4:c.1281_1359del ENSP00000482149.1:p.Arg428TrpfsTer?
NM_000162.3:c.1284_1362del NP_000153.1:p.Arg429TrpfsTer?
NM_033507.1:c.1287_1365del NP_277042.1:p.Arg430TrpfsTer?
NM_033508.1:c.1281_1359del NP_277043.1:p.Arg428TrpfsTer?
NM_000162.4:c.1284_1362del NP_000153.1:p.Arg429TrpfsTer?
NM_001354800.1:c.1284_1362del NP_001341729.1:p.Arg429TrpfsTer9
NM_001354801.1:c.273_351del NP_001341730.1:p.Arg92TrpfsTer?
NM_001354802.1:c.144_222del NP_001341731.1:p.Arg49TrpfsTer9
NM_001354803.1:c.318_396del NP_001341732.1:p.Arg107TrpfsTer?
NM_033507.2:c.1287_1365del NP_277042.1:p.Arg430TrpfsTer?
NM_033508.2:c.1281_1359del NP_277043.1:p.Arg428TrpfsTer?
XM_024446707.1:c.144_222del XP_024302475.1:p.Arg49TrpfsTer?
NM_000162.5:c.1284_1362del MANE Select NP_000153.1:p.Arg429TrpfsTer?
NM_033507.3:c.1287_1365del NP_277042.1:p.Arg430TrpfsTer?
NM_033508.3:c.1281_1359del NP_277043.1:p.Arg428TrpfsTer?
NM_001354803.2:c.318_396del NP_001341732.1:p.Arg107TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'