Canonical Allele Identifier: CA2017997777
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578361
ClinVar RCV Id: RCV003326087

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145187del , CM000669.2:g.44145187del GRCh38
NC_000007.13:g.44184786del , CM000669.1:g.44184786del GRCh37
NC_000007.12:g.44151311del NCBI36
NG_008847.1:g.49238del
NG_008847.2:g.57985del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1346del ENSP00000379142.4:n.*1346del
ENST00000616242.5:c.*468del ENSP00000482149.2:n.*468del
ENST00000683378.1:n.574del
ENST00000336642.9:c.382del ENSP00000338009.5:p.Ala128ProfsTer?
ENST00000345378.7:c.1351del ENSP00000223366.2:p.Ala451ProfsTer?
ENST00000403799.8:c.1348del MANE Select ENSP00000384247.3:p.Ala450ProfsTer?
ENST00000671824.1:c.1411del ENSP00000500264.1:p.Ala471ProfsTer?
ENST00000672743.1:n.360del
ENST00000673284.1:c.1348del ENSP00000499852.1:p.Ala450ProfsTer14
ENST00000336642.8:c.400del ENSP00000338009.4:p.Ala134ProfsTer?
ENST00000345378.6:c.1351del ENSP00000223366.2:p.Ala451ProfsTer?
ENST00000395796.7:c.1345del ENSP00000379142.3:p.Ala449ProfsTer?
ENST00000403799.7:c.1348del ENSP00000384247.3:p.Ala450ProfsTer?
ENST00000437084.1:c.1297del ENSP00000402840.1:p.Ala433ProfsTer?
ENST00000459642.1:n.728del
ENST00000616242.4:c.1345del ENSP00000482149.1:p.Ala449ProfsTer?
NM_000162.3:c.1348del NP_000153.1:p.Ala450ProfsTer?
NM_033507.1:c.1351del NP_277042.1:p.Ala451ProfsTer?
NM_033508.1:c.1345del NP_277043.1:p.Ala449ProfsTer?
NM_000162.4:c.1348del NP_000153.1:p.Ala450ProfsTer?
NM_001354800.1:c.1348del NP_001341729.1:p.Ala450ProfsTer14
NM_001354801.1:c.337del NP_001341730.1:p.Ala113ProfsTer?
NM_001354802.1:c.208del NP_001341731.1:p.Ala70ProfsTer14
NM_001354803.1:c.382del NP_001341732.1:p.Ala128ProfsTer?
NM_033507.2:c.1351del NP_277042.1:p.Ala451ProfsTer?
NM_033508.2:c.1345del NP_277043.1:p.Ala449ProfsTer?
XM_024446707.1:c.208del XP_024302475.1:p.Ala70ProfsTer?
NM_000162.5:c.1348del MANE Select NP_000153.1:p.Ala450ProfsTer?
NM_033507.3:c.1351del NP_277042.1:p.Ala451ProfsTer?
NM_033508.3:c.1345del NP_277043.1:p.Ala449ProfsTer?
NM_001354803.2:c.382del NP_001341732.1:p.Ala128ProfsTer?