Canonical Allele Identifier: CA16618465
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 421604
ClinVar RCV Id: RCV000481054
dbSNP Id: rs1064795242

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145196del , CM000669.2:g.44145196del GRCh38
NC_000007.13:g.44184795del , CM000669.1:g.44184795del GRCh37
NC_000007.12:g.44151320del NCBI36
NG_008847.1:g.49229del
NG_008847.2:g.57976del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1337del ENSP00000379142.4:n.*1337del
ENST00000616242.5:c.*459del ENSP00000482149.2:n.*459del
ENST00000683378.1:n.565del
ENST00000336642.9:c.373del ENSP00000338009.5:p.Arg125GlyfsTer?
ENST00000345378.7:c.1342del ENSP00000223366.2:p.Arg448GlyfsTer?
ENST00000403799.8:c.1339del MANE Select ENSP00000384247.3:p.Arg447GlyfsTer?
ENST00000671824.1:c.1402del ENSP00000500264.1:p.Arg468GlyfsTer?
ENST00000672743.1:n.351del
ENST00000673284.1:c.1339del ENSP00000499852.1:p.Arg447GlyfsTer17
ENST00000336642.8:c.391del ENSP00000338009.4:p.Arg131GlyfsTer?
ENST00000345378.6:c.1342del ENSP00000223366.2:p.Arg448GlyfsTer?
ENST00000395796.7:c.1336del ENSP00000379142.3:p.Arg446GlyfsTer?
ENST00000403799.7:c.1339del ENSP00000384247.3:p.Arg447GlyfsTer?
ENST00000437084.1:c.1288del ENSP00000402840.1:p.Arg430GlyfsTer?
ENST00000459642.1:n.719del
ENST00000616242.4:c.1336del ENSP00000482149.1:p.Arg446GlyfsTer?
NM_000162.3:c.1339del NP_000153.1:p.Arg447GlyfsTer?
NM_033507.1:c.1342del NP_277042.1:p.Arg448GlyfsTer?
NM_033508.1:c.1336del NP_277043.1:p.Arg446GlyfsTer?
NM_000162.4:c.1339del NP_000153.1:p.Arg447GlyfsTer?
NM_001354800.1:c.1339del NP_001341729.1:p.Arg447GlyfsTer17
NM_001354801.1:c.328del NP_001341730.1:p.Arg110GlyfsTer?
NM_001354802.1:c.199del NP_001341731.1:p.Arg67GlyfsTer17
NM_001354803.1:c.373del NP_001341732.1:p.Arg125GlyfsTer?
NM_033507.2:c.1342del NP_277042.1:p.Arg448GlyfsTer?
NM_033508.2:c.1336del NP_277043.1:p.Arg446GlyfsTer?
XM_024446707.1:c.199del XP_024302475.1:p.Arg67GlyfsTer?
NM_000162.5:c.1339del MANE Select NP_000153.1:p.Arg447GlyfsTer?
NM_033507.3:c.1342del NP_277042.1:p.Arg448GlyfsTer?
NM_033508.3:c.1336del NP_277043.1:p.Arg446GlyfsTer?
NM_001354803.2:c.373del NP_001341732.1:p.Arg125GlyfsTer?