Canonical Allele Identifier: CA2580077178

Gene: GCK

Linked Data

• ClinVar Variation Id: 1709882
• ClinVar RCV Id: RCV002290224

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147728dup , CM000669.2:g.44147728dup	GRCh38
NC_000007.13:g.44187327dup , CM000669.1:g.44187327dup	GRCh37
NC_000007.12:g.44153852dup	NCBI36
NG_008847.1:g.46696dup
NG_008847.2:g.55443dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*783dup	ENSP00000379142.4:n.*783dup
ENST00000616242.5:c.785dup	ENSP00000482149.2:p.Asp262GlufsTer13
ENST00000345378.7:c.788dup	ENSP00000223366.2:p.Asp263GlufsTer13
ENST00000403799.8:c.785dup MANE Select	ENSP00000384247.3:p.Asp262GlufsTer13
ENST00000671824.1:c.785dup	ENSP00000500264.1:p.Asp262GlufsTer13
ENST00000673284.1:c.785dup	ENSP00000499852.1:p.Asp262GlufsTer13
ENST00000345378.6:c.788dup	ENSP00000223366.2:p.Asp263GlufsTer13
ENST00000395796.7:c.782dup	ENSP00000379142.3:p.Asp261GlufsTer13
ENST00000403799.7:c.785dup	ENSP00000384247.3:p.Asp262GlufsTer13
ENST00000437084.1:c.734dup	ENSP00000402840.1:p.Asp245GlufsTer13
ENST00000616242.4:c.782dup	ENSP00000482149.1:p.Asp261GlufsTer13
NM_000162.3:c.785dup	NP_000153.1:p.Asp262GlufsTer13
NM_033507.1:c.788dup	NP_277042.1:p.Asp263GlufsTer13
NM_033508.1:c.782dup	NP_277043.1:p.Asp261GlufsTer13
XR_927223.1:n.62dup
NM_000162.4:c.785dup	NP_000153.1:p.Asp262GlufsTer13
NM_001354800.1:c.785dup	NP_001341729.1:p.Asp262GlufsTer13
NM_033507.2:c.788dup	NP_277042.1:p.Asp263GlufsTer13
NM_033508.2:c.782dup	NP_277043.1:p.Asp261GlufsTer13
XR_927223.2:n.62dup
NM_000162.5:c.785dup MANE Select	NP_000153.1:p.Asp262GlufsTer13
NM_033507.3:c.788dup	NP_277042.1:p.Asp263GlufsTer13
NM_033508.3:c.782dup	NP_277043.1:p.Asp261GlufsTer13