Canonical Allele Identifier: CA213742
Gene: GCK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36190
ClinVar RCV Id: RCV000029853
dbSNP Id: rs193922274

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145176_44145255delinsTGTAA , CM000669.2:g.44145176_44145255delinsTGTAA GRCh38
NC_000007.13:g.44184775_44184854delinsTGTAA , CM000669.1:g.44184775_44184854delinsTGTAA GRCh37
NC_000007.12:g.44151300_44151379delinsTGTAA NCBI36
NG_008847.1:g.49169_49248delinsTTACA
NG_008847.2:g.57916_57995delinsTTACA

Transcript Alleles

HGVS Amino-acid change
NM_000162.3:c.1279_1358delinsTTACA VV NP_000153.1:p.Val427_Ser453delinsLeuGln
NM_033507.1:c.1282_1361delinsTTACA VV NP_277042.1:p.Val428_Ser454delinsLeuGln
NM_033508.1:c.1276_1355delinsTTACA VV NP_277043.1:p.Val426_Ser452delinsLeuGln
NM_000162.4:c.1279_1358delinsTTACA VV
NM_001354800.1:c.1279_1358delinsTTACA VV NP_001341729.1:p.Val427_Ser453delinsLeuGl...
NM_001354801.1:c.268_347delinsTTACA VV NP_001341730.1:p.Val90_Ser116delinsLeuGln...
NM_001354802.1:c.139_218delinsTTACA VV NP_001341731.1:p.Val47_Ser73delinsLeuGln
NM_001354803.1:c.313_392delinsTTACA VV NP_001341732.1:p.Val105_Ser131delinsLeuGl...
NM_033507.2:c.1282_1361delinsTTACA VV
NM_033508.2:c.1276_1355delinsTTACA VV
XM_024446707.1:c.139_218delinsTTACA XP_024302475.1:p.Val47_Ser73delinsLeuGln
NM_000162.5:c.1279_1358delinsTTACA VV MANE Preferred
ENST00000336642.8:n.331_410delinsTTACA ENSP00000338009.4:p.Val111_Ser137delinsLe...
ENST00000345378.6:c.1282_1361delinsTTACA ENSP00000223366.2:p.Val428_Ser454delinsLe...
ENST00000395796.7:c.1276_1355delinsTTACA ENSP00000379142.3:p.Val426_Ser452delinsLe...
ENST00000403799.7:c.1279_1358delinsTTACA ENSP00000384247.3:p.Val427_Ser453delinsLe...
ENST00000437084.1:c.1228_1307delinsTTACA ENSP00000402840.1:p.Val410_Ser436delinsLe...
ENST00000459642.1:n.659_738delinsTTACA
ENST00000616242.4:n.1276_1355delinsTTACA ENSP00000482149.1:p.Val426_Ser452delinsLe...