Canonical Allele Identifier: CA1139660054
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 916047
dbSNP Id: rs2096270578

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145222_44145300del , CM000669.2:g.44145222_44145300del GRCh38
NC_000007.13:g.44184821_44184899del , CM000669.1:g.44184821_44184899del GRCh37
NC_000007.12:g.44151346_44151424del NCBI36
NG_008847.1:g.49124_49202del
NG_008847.2:g.57871_57949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1252-20_*1310del
ENST00000616242.5:c.*374-20_*432del
ENST00000683378.1:n.480-20_538del
ENST00000336642.9:c.288-20_346del
ENST00000345378.7:c.1257-20_1315del
ENST00000403799.8:c.1254-20_1312del
ENST00000671824.1:c.1317-20_1375del
ENST00000672743.1:n.266-20_324del
ENST00000673284.1:c.1254-20_1312del
ENST00000336642.8:c.306-20_364del
ENST00000345378.6:c.1257-20_1315del
ENST00000395796.7:c.1251-20_1309del
ENST00000403799.7:c.1254-20_1312del
ENST00000437084.1:c.1203-20_1261del
ENST00000459642.1:n.634-20_692del
ENST00000616242.4:c.1251-20_1309del
NM_000162.3:c.1254-20_1312del
NM_033507.1:c.1257-20_1315del
NM_033508.1:c.1251-20_1309del
NM_000162.4:c.1254-20_1312del
NM_001354800.1:c.1254-20_1312del
NM_001354801.1:c.243-20_301del
NM_001354802.1:c.114-20_172del
NM_001354803.1:c.288-20_346del
NM_033507.2:c.1257-20_1315del
NM_033508.2:c.1251-20_1309del
XM_024446707.1:c.114-20_172del
NM_000162.5:c.1254-20_1312del
NM_033507.3:c.1257-20_1315del
NM_033508.3:c.1251-20_1309del
NM_001354803.2:c.288-20_346del