Canonical Allele Identifier: CA2017997778
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1708917

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145185del , CM000669.2:g.44145185del GRCh38
NC_000007.13:g.44184784del , CM000669.1:g.44184784del GRCh37
NC_000007.12:g.44151309del NCBI36
NG_008847.1:g.49241del
NG_008847.2:g.57988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1349del ENSP00000379142.4:n.*1349del
ENST00000616242.5:c.*471del ENSP00000482149.2:n.*471del
ENST00000683378.1:n.577del
ENST00000336642.9:c.385del ENSP00000338009.5:p.Leu129TrpfsTer?
ENST00000345378.7:c.1354del ENSP00000223366.2:p.Leu452TrpfsTer?
ENST00000403799.8:c.1351del MANE Select ENSP00000384247.3:p.Leu451TrpfsTer?
ENST00000671824.1:c.1414del ENSP00000500264.1:p.Leu472TrpfsTer?
ENST00000672743.1:n.363del
ENST00000673284.1:c.1351del ENSP00000499852.1:p.Leu451TrpfsTer13
ENST00000336642.8:c.403del ENSP00000338009.4:p.Leu135TrpfsTer?
ENST00000345378.6:c.1354del ENSP00000223366.2:p.Leu452TrpfsTer?
ENST00000395796.7:c.1348del ENSP00000379142.3:p.Leu450TrpfsTer?
ENST00000403799.7:c.1351del ENSP00000384247.3:p.Leu451TrpfsTer?
ENST00000437084.1:c.1300del ENSP00000402840.1:p.Leu434TrpfsTer?
ENST00000459642.1:n.731del
ENST00000616242.4:c.1348del ENSP00000482149.1:p.Leu450TrpfsTer?
NM_000162.3:c.1351del NP_000153.1:p.Leu451TrpfsTer?
NM_033507.1:c.1354del NP_277042.1:p.Leu452TrpfsTer?
NM_033508.1:c.1348del NP_277043.1:p.Leu450TrpfsTer?
NM_000162.4:c.1351del NP_000153.1:p.Leu451TrpfsTer?
NM_001354800.1:c.1351del NP_001341729.1:p.Leu451TrpfsTer13
NM_001354801.1:c.340del NP_001341730.1:p.Leu114TrpfsTer?
NM_001354802.1:c.211del NP_001341731.1:p.Leu71TrpfsTer13
NM_001354803.1:c.385del NP_001341732.1:p.Leu129TrpfsTer?
NM_033507.2:c.1354del NP_277042.1:p.Leu452TrpfsTer?
NM_033508.2:c.1348del NP_277043.1:p.Leu450TrpfsTer?
XM_024446707.1:c.211del XP_024302475.1:p.Leu71TrpfsTer?
NM_000162.5:c.1351del MANE Select NP_000153.1:p.Leu451TrpfsTer?
NM_033507.3:c.1354del NP_277042.1:p.Leu452TrpfsTer?
NM_033508.3:c.1348del NP_277043.1:p.Leu450TrpfsTer?
NM_001354803.2:c.385del NP_001341732.1:p.Leu129TrpfsTer?