Canonical Allele Identifier: CA2573142147

Gene: GCK

Linked Data

• ClinVar Variation Id: 1453011
• ClinVar RCV Id: RCV002000079
• dbSNP Id: rs2128822650

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152314dup , CM000669.2:g.44152314dup	GRCh38
NC_000007.13:g.44191913dup , CM000669.1:g.44191913dup	GRCh37
NC_000007.12:g.44158438dup	NCBI36
NG_008847.1:g.42110dup
NG_008847.2:g.50857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*318dup	ENSP00000379142.4:n.*318dup
ENST00000616242.5:c.320dup	ENSP00000482149.2:p.Met107IlefsTer14
ENST00000682635.1:n.806dup
ENST00000345378.7:c.323dup	ENSP00000223366.2:p.Met108IlefsTer14
ENST00000403799.8:c.320dup MANE Select	ENSP00000384247.3:p.Met107IlefsTer14
ENST00000671824.1:c.320dup	ENSP00000500264.1:p.Met107IlefsTer14
ENST00000673284.1:c.320dup	ENSP00000499852.1:p.Met107IlefsTer14
ENST00000345378.6:c.323dup	ENSP00000223366.2:p.Met108IlefsTer14
ENST00000395796.7:c.317dup	ENSP00000379142.3:p.Met106IlefsTer14
ENST00000403799.7:c.320dup	ENSP00000384247.3:p.Met107IlefsTer14
ENST00000437084.1:c.320dup	ENSP00000402840.1:p.Met107IlefsTer14
ENST00000616242.4:c.317dup	ENSP00000482149.1:p.Met106IlefsTer14
NM_000162.3:c.320dup	NP_000153.1:p.Met107IlefsTer14
NM_033507.1:c.323dup	NP_277042.1:p.Met108IlefsTer14
NM_033508.1:c.317dup	NP_277043.1:p.Met106IlefsTer14
NM_000162.4:c.320dup	NP_000153.1:p.Met107IlefsTer14
NM_001354800.1:c.320dup	NP_001341729.1:p.Met107IlefsTer14
NM_033507.2:c.323dup	NP_277042.1:p.Met108IlefsTer14
NM_033508.2:c.317dup	NP_277043.1:p.Met106IlefsTer14
NM_000162.5:c.320dup MANE Select	NP_000153.1:p.Met107IlefsTer14
NM_033507.3:c.323dup	NP_277042.1:p.Met108IlefsTer14
NM_033508.3:c.317dup	NP_277043.1:p.Met106IlefsTer14