Canonical Allele Identifier: CA2714458558
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2128818723

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145162del , CM000669.2:g.44145162del GRCh38
NC_000007.13:g.44184761del , CM000669.1:g.44184761del GRCh37
NC_000007.12:g.44151286del NCBI36
NG_008847.1:g.49263del
NG_008847.2:g.58010del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1371del ENSP00000379142.4:n.*1371del
ENST00000616242.5:c.*493del ENSP00000482149.2:n.*493del
ENST00000683378.1:n.599del
ENST00000336642.9:c.407del ENSP00000338009.5:p.Lys136ArgfsTer?
ENST00000345378.7:c.1376del ENSP00000223366.2:p.Lys459ArgfsTer?
ENST00000403799.8:c.1373del MANE Select ENSP00000384247.3:p.Lys458ArgfsTer?
ENST00000671824.1:c.1436del ENSP00000500264.1:p.Lys479ArgfsTer?
ENST00000672743.1:n.381+4del
ENST00000673284.1:c.1369+4del ENSP00000499852.1:n.1369+4del
ENST00000336642.8:c.425del ENSP00000338009.4:p.Lys142ArgfsTer?
ENST00000345378.6:c.1376del ENSP00000223366.2:p.Lys459ArgfsTer?
ENST00000395796.7:c.1370del ENSP00000379142.3:p.Lys457ArgfsTer?
ENST00000403799.7:c.1373del ENSP00000384247.3:p.Lys458ArgfsTer?
ENST00000437084.1:c.1322del ENSP00000402840.1:p.Lys441ArgfsTer?
ENST00000459642.1:n.753del
ENST00000616242.4:c.1370del ENSP00000482149.1:p.Lys457ArgfsTer?
NM_000162.3:c.1373del NP_000153.1:p.Lys458ArgfsTer?
NM_033507.1:c.1376del NP_277042.1:p.Lys459ArgfsTer?
NM_033508.1:c.1370del NP_277043.1:p.Lys457ArgfsTer?
NM_000162.4:c.1373del NP_000153.1:p.Lys458ArgfsTer?
NM_001354800.1:c.1369+4del NP_001341729.1:n.1369+4del
NM_001354801.1:c.362del NP_001341730.1:p.Lys121ArgfsTer?
NM_001354802.1:c.229+4del NP_001341731.1:n.229+4del
NM_001354803.1:c.407del NP_001341732.1:p.Lys136ArgfsTer?
NM_033507.2:c.1376del NP_277042.1:p.Lys459ArgfsTer?
NM_033508.2:c.1370del NP_277043.1:p.Lys457ArgfsTer?
XM_024446707.1:c.233del XP_024302475.1:p.Lys78ArgfsTer?
NM_000162.5:c.1373del MANE Select NP_000153.1:p.Lys458ArgfsTer?
NM_033507.3:c.1376del NP_277042.1:p.Lys459ArgfsTer?
NM_033508.3:c.1370del NP_277043.1:p.Lys457ArgfsTer?
NM_001354803.2:c.407del NP_001341732.1:p.Lys136ArgfsTer?