Canonical Allele Identifier: CA2573102978
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571655
ClinVar RCV Id: RCV003313365

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145157del , CM000669.2:g.44145157del GRCh38
NC_000007.13:g.44184756del , CM000669.1:g.44184756del GRCh37
NC_000007.12:g.44151281del NCBI36
NG_008847.1:g.49268del
NG_008847.2:g.58015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1376del ENSP00000379142.4:n.*1376del
ENST00000616242.5:c.*498del ENSP00000482149.2:n.*498del
ENST00000683378.1:n.604del
ENST00000336642.9:c.412del ENSP00000338009.5:p.Ala138ProfsTer?
ENST00000345378.7:c.1381del ENSP00000223366.2:p.Ala461ProfsTer?
ENST00000403799.8:c.1378del MANE Select ENSP00000384247.3:p.Ala460ProfsTer?
ENST00000671824.1:c.1441del ENSP00000500264.1:p.Ala481ProfsTer?
ENST00000672743.1:n.381+9del
ENST00000673284.1:c.1369+9del ENSP00000499852.1:n.1369+9del
ENST00000336642.8:c.430del ENSP00000338009.4:p.Ala144ProfsTer?
ENST00000345378.6:c.1381del ENSP00000223366.2:p.Ala461ProfsTer?
ENST00000395796.7:c.1375del ENSP00000379142.3:p.Ala459ProfsTer?
ENST00000403799.7:c.1378del ENSP00000384247.3:p.Ala460ProfsTer?
ENST00000437084.1:c.1327del ENSP00000402840.1:p.Ala443ProfsTer?
ENST00000459642.1:n.758del
ENST00000616242.4:c.1375del ENSP00000482149.1:p.Ala459ProfsTer?
NM_000162.3:c.1378del NP_000153.1:p.Ala460ProfsTer?
NM_033507.1:c.1381del NP_277042.1:p.Ala461ProfsTer?
NM_033508.1:c.1375del NP_277043.1:p.Ala459ProfsTer?
NM_000162.4:c.1378del NP_000153.1:p.Ala460ProfsTer?
NM_001354800.1:c.1369+9del NP_001341729.1:n.1369+9del
NM_001354801.1:c.367del NP_001341730.1:p.Ala123ProfsTer?
NM_001354802.1:c.229+9del NP_001341731.1:n.229+9del
NM_001354803.1:c.412del NP_001341732.1:p.Ala138ProfsTer?
NM_033507.2:c.1381del NP_277042.1:p.Ala461ProfsTer?
NM_033508.2:c.1375del NP_277043.1:p.Ala459ProfsTer?
XM_024446707.1:c.238del XP_024302475.1:p.Ala80ProfsTer?
NM_000162.5:c.1378del MANE Select NP_000153.1:p.Ala460ProfsTer?
NM_033507.3:c.1381del NP_277042.1:p.Ala461ProfsTer?
NM_033508.3:c.1375del NP_277043.1:p.Ala459ProfsTer?
NM_001354803.2:c.412del NP_001341732.1:p.Ala138ProfsTer?