Canonical Allele Identifier: CA2580077161
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1785218
ClinVar RCV Id: RCV002421967

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145675del , CM000669.2:g.44145675del GRCh38
NC_000007.13:g.44185274del , CM000669.1:g.44185274del GRCh37
NC_000007.12:g.44151799del NCBI36
NG_008847.1:g.48751del
NG_008847.2:g.57498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1075del ENSP00000379142.4:n.*1075del
ENST00000616242.5:c.*197del ENSP00000482149.2:n.*197del
ENST00000683378.1:n.303del
ENST00000336642.9:c.111del ENSP00000338009.5:p.Ser38ArgfsTer?
ENST00000345378.7:c.1080del ENSP00000223366.2:p.Ser361ArgfsTer?
ENST00000403799.8:c.1077del MANE Select ENSP00000384247.3:p.Ser360ArgfsTer?
ENST00000671824.1:c.1140del ENSP00000500264.1:p.Ser381ArgfsTer?
ENST00000672743.1:n.89del
ENST00000673284.1:c.1077del ENSP00000499852.1:p.Ser360ArgfsTer?
ENST00000336642.8:c.129del ENSP00000338009.4:p.Ser44ArgfsTer?
ENST00000345378.6:c.1080del ENSP00000223366.2:p.Ser361ArgfsTer?
ENST00000395796.7:c.1074del ENSP00000379142.3:p.Ser359ArgfsTer?
ENST00000403799.7:c.1077del ENSP00000384247.3:p.Ser360ArgfsTer?
ENST00000437084.1:c.1026del ENSP00000402840.1:p.Ser343ArgfsTer?
ENST00000459642.1:n.457del
ENST00000473353.1:n.375del
ENST00000616242.4:c.1074del ENSP00000482149.1:p.Ser359ArgfsTer?
NM_000162.3:c.1077del NP_000153.1:p.Ser360ArgfsTer?
NM_033507.1:c.1080del NP_277042.1:p.Ser361ArgfsTer?
NM_033508.1:c.1074del NP_277043.1:p.Ser359ArgfsTer?
NM_000162.4:c.1077del NP_000153.1:p.Ser360ArgfsTer?
NM_001354800.1:c.1077del NP_001341729.1:p.Ser360ArgfsTer?
NM_001354801.1:c.66del NP_001341730.1:p.Ser23ArgfsTer?
NM_001354802.1:c.-64del NP_001341731.1:n.-64del
NM_001354803.1:c.111del NP_001341732.1:p.Ser38ArgfsTer?
NM_033507.2:c.1080del NP_277042.1:p.Ser361ArgfsTer?
NM_033508.2:c.1074del NP_277043.1:p.Ser359ArgfsTer?
XM_024446707.1:c.-64del XP_024302475.1:n.-64del
NM_000162.5:c.1077del MANE Select NP_000153.1:p.Ser360ArgfsTer?
NM_033507.3:c.1080del NP_277042.1:p.Ser361ArgfsTer?
NM_033508.3:c.1074del NP_277043.1:p.Ser359ArgfsTer?
NM_001354803.2:c.111del NP_001341732.1:p.Ser38ArgfsTer?