Canonical Allele Identifier: CA1139660058
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 976272
ClinVar RCV Id: RCV001253516 RCV002463794
dbSNP Id: rs2096278772
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44150018_44150019delinsAA , CM000669.2:g.44150018_44150019delinsAA GRCh38
NC_000007.13:g.44189617_44189618delinsAA , CM000669.1:g.44189617_44189618delinsAA GRCh37
NC_000007.12:g.44156142_44156143delinsAA NCBI36
NG_008847.1:g.44405_44406delinsTT
NG_008847.2:g.53152_53153delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*527_*528delinsTT ENSP00000379142.4:n.*527_*528delinsTT
ENST00000616242.5:c.529_530delinsTT ENSP00000482149.2:p.Glu177Leu
ENST00000682635.1:n.1015_1016delinsTT
ENST00000345378.7:c.532_533delinsTT ENSP00000223366.2:p.Glu178Leu
ENST00000403799.8:c.529_530delinsTT MANE Select ENSP00000384247.3:p.Glu177Leu
ENST00000671824.1:c.529_530delinsTT ENSP00000500264.1:p.Glu177Leu
ENST00000673284.1:c.529_530delinsTT ENSP00000499852.1:p.Glu177Leu
ENST00000345378.6:c.532_533delinsTT ENSP00000223366.2:p.Glu178Leu
ENST00000395796.7:c.526_527delinsTT ENSP00000379142.3:p.Glu176Leu
ENST00000403799.7:c.529_530delinsTT ENSP00000384247.3:p.Glu177Leu
ENST00000437084.1:c.478_479delinsTT ENSP00000402840.1:p.Glu160Leu
ENST00000616242.4:c.526_527delinsTT ENSP00000482149.1:p.Glu176Leu
NM_000162.3:c.529_530delinsTT NP_000153.1:p.Glu177Leu
NM_033507.1:c.532_533delinsTT NP_277042.1:p.Glu178Leu
NM_033508.1:c.526_527delinsTT NP_277043.1:p.Glu176Leu
NM_000162.4:c.529_530delinsTT NP_000153.1:p.Glu177Leu
NM_001354800.1:c.529_530delinsTT NP_001341729.1:p.Glu177Leu
NM_033507.2:c.532_533delinsTT NP_277042.1:p.Glu178Leu
NM_033508.2:c.526_527delinsTT NP_277043.1:p.Glu176Leu
NM_000162.5:c.529_530delinsTT MANE Select NP_000153.1:p.Glu177Leu
NM_033507.3:c.532_533delinsTT NP_277042.1:p.Glu178Leu
NM_033508.3:c.526_527delinsTT NP_277043.1:p.Glu176Leu
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