Canonical Allele Identifier: CA2580615881

Gene: GCK

Linked Data

• ClinVar Variation Id: 1752729
• ClinVar RCV Id: RCV002368789 ; RCV003718532

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44149810_44149812dup , CM000669.2:g.44149810_44149812dup	GRCh38
NC_000007.13:g.44189409_44189411dup , CM000669.1:g.44189409_44189411dup	GRCh37
NC_000007.12:g.44155934_44155936dup	NCBI36
NG_008847.1:g.44615_44617dup
NG_008847.2:g.53362_53364dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*628_*630dup	ENSP00000379142.4:n.*628_*630dup
ENST00000616242.5:c.630_632dup	ENSP00000482149.2:p.Met210_Ile211insMet
ENST00000682635.1:n.1116_1118dup
ENST00000345378.7:c.633_635dup	ENSP00000223366.2:p.Met211_Ile212insMet
ENST00000403799.8:c.630_632dup MANE Select	ENSP00000384247.3:p.Met210_Ile211insMet
ENST00000671824.1:c.630_632dup	ENSP00000500264.1:p.Met210_Ile211insMet
ENST00000673284.1:c.630_632dup	ENSP00000499852.1:p.Met210_Ile211insMet
ENST00000345378.6:c.633_635dup	ENSP00000223366.2:p.Met211_Ile212insMet
ENST00000395796.7:c.627_629dup	ENSP00000379142.3:p.Met209_Ile210insMet
ENST00000403799.7:c.630_632dup	ENSP00000384247.3:p.Met210_Ile211insMet
ENST00000437084.1:c.579_581dup	ENSP00000402840.1:p.Met193_Ile194insMet
ENST00000616242.4:c.627_629dup	ENSP00000482149.1:p.Met209_Ile210insMet
NM_000162.3:c.630_632dup	NP_000153.1:p.Met210_Ile211insMet
NM_033507.1:c.633_635dup	NP_277042.1:p.Met211_Ile212insMet
NM_033508.1:c.627_629dup	NP_277043.1:p.Met209_Ile210insMet
NM_000162.4:c.630_632dup	NP_000153.1:p.Met210_Ile211insMet
NM_001354800.1:c.630_632dup	NP_001341729.1:p.Met210_Ile211insMet
NM_033507.2:c.633_635dup	NP_277042.1:p.Met211_Ile212insMet
NM_033508.2:c.627_629dup	NP_277043.1:p.Met209_Ile210insMet
NM_000162.5:c.630_632dup MANE Select	NP_000153.1:p.Met210_Ile211insMet
NM_033507.3:c.633_635dup	NP_277042.1:p.Met211_Ile212insMet
NM_033508.3:c.627_629dup	NP_277043.1:p.Met209_Ile210insMet