Canonical Allele Identifier: CA2573052881
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1338667
ClinVar RCV Id: RCV001818038
dbSNP Id: rs2128822656

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44152317del , CM000669.2:g.44152317del GRCh38
NC_000007.13:g.44191916del , CM000669.1:g.44191916del GRCh37
NC_000007.12:g.44158441del NCBI36
NG_008847.1:g.42107del
NG_008847.2:g.50854del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*315del ENSP00000379142.4:n.*315del
ENST00000616242.5:c.317del ENSP00000482149.2:p.Gln106ArgfsTer10
ENST00000682635.1:n.803del
ENST00000345378.7:c.320del ENSP00000223366.2:p.Gln107ArgfsTer10
ENST00000403799.8:c.317del MANE Select ENSP00000384247.3:p.Gln106ArgfsTer10
ENST00000671824.1:c.317del ENSP00000500264.1:p.Gln106ArgfsTer10
ENST00000673284.1:c.317del ENSP00000499852.1:p.Gln106ArgfsTer10
ENST00000345378.6:c.320del ENSP00000223366.2:p.Gln107ArgfsTer10
ENST00000395796.7:c.314del ENSP00000379142.3:p.Gln105ArgfsTer10
ENST00000403799.7:c.317del ENSP00000384247.3:p.Gln106ArgfsTer10
ENST00000437084.1:c.317del ENSP00000402840.1:p.Gln106ArgfsTer10
ENST00000616242.4:c.314del ENSP00000482149.1:p.Gln105ArgfsTer10
NM_000162.3:c.317del NP_000153.1:p.Gln106ArgfsTer10
NM_033507.1:c.320del NP_277042.1:p.Gln107ArgfsTer10
NM_033508.1:c.314del NP_277043.1:p.Gln105ArgfsTer10
NM_000162.4:c.317del NP_000153.1:p.Gln106ArgfsTer10
NM_001354800.1:c.317del NP_001341729.1:p.Gln106ArgfsTer10
NM_033507.2:c.320del NP_277042.1:p.Gln107ArgfsTer10
NM_033508.2:c.314del NP_277043.1:p.Gln105ArgfsTer10
NM_000162.5:c.317del MANE Select NP_000153.1:p.Gln106ArgfsTer10
NM_033507.3:c.320del NP_277042.1:p.Gln107ArgfsTer10
NM_033508.3:c.314del NP_277043.1:p.Gln105ArgfsTer10