Canonical Allele Identifier: CA913187396

Gene: GCK

Linked Data

• ClinVar Variation Id: 3075768
• ClinVar RCV Id: RCV004018086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153386_44153393dup , CM000669.2:g.44153386_44153393dup	GRCh38
NC_000007.13:g.44192985_44192992dup , CM000669.1:g.44192985_44192992dup	GRCh37
NC_000007.12:g.44159510_44159517dup	NCBI36
NG_008847.1:g.41031_41038dup
NG_008847.2:g.49778_49785dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*114_*121dup	ENSP00000379142.4:n.*114_*121dup
ENST00000616242.5:c.116_123dup	ENSP00000482149.2:p.Asp42ArgfsTer7
ENST00000682635.1:n.602_609dup
ENST00000345378.7:c.119_126dup	ENSP00000223366.2:p.Asp43ArgfsTer7
ENST00000403799.8:c.116_123dup MANE Select	ENSP00000384247.3:p.Asp42ArgfsTer7
ENST00000671824.1:c.116_123dup	ENSP00000500264.1:p.Asp42ArgfsTer7
ENST00000673284.1:c.116_123dup	ENSP00000499852.1:p.Asp42ArgfsTer7
ENST00000345378.6:c.119_126dup	ENSP00000223366.2:p.Asp43ArgfsTer7
ENST00000395796.7:c.113_120dup	ENSP00000379142.3:p.Asp41ArgfsTer7
ENST00000403799.7:c.116_123dup	ENSP00000384247.3:p.Asp42ArgfsTer7
ENST00000437084.1:c.116_123dup	ENSP00000402840.1:p.Asp42ArgfsTer7
ENST00000616242.4:c.113_120dup	ENSP00000482149.1:p.Asp41ArgfsTer7
NM_000162.3:c.116_123dup	NP_000153.1:p.Asp42ArgfsTer7
NM_033507.1:c.119_126dup	NP_277042.1:p.Asp43ArgfsTer7
NM_033508.1:c.113_120dup	NP_277043.1:p.Asp41ArgfsTer7
NM_000162.4:c.116_123dup	NP_000153.1:p.Asp42ArgfsTer7
NM_001354800.1:c.116_123dup	NP_001341729.1:p.Asp42ArgfsTer7
NM_033507.2:c.119_126dup	NP_277042.1:p.Asp43ArgfsTer7
NM_033508.2:c.113_120dup	NP_277043.1:p.Asp41ArgfsTer7
NM_000162.5:c.116_123dup MANE Select	NP_000153.1:p.Asp42ArgfsTer7
NM_033507.3:c.119_126dup	NP_277042.1:p.Asp43ArgfsTer7
NM_033508.3:c.113_120dup	NP_277043.1:p.Asp41ArgfsTer7