Canonical Allele Identifier: CA2580077163

Gene: GCK

Linked Data

• ClinVar Variation Id: 2086998
• ClinVar RCV Id: RCV003007767

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44152379_44152380del , CM000669.2:g.44152379_44152380del	GRCh38
NC_000007.13:g.44191978_44191979del , CM000669.1:g.44191978_44191979del	GRCh37
NC_000007.12:g.44158503_44158504del	NCBI36
NG_008847.1:g.42045_42046del
NG_008847.2:g.50792_50793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*253_*254del	ENSP00000379142.4:n.*253_*254del
ENST00000616242.5:c.255_256del	ENSP00000482149.2:p.Arg85SerfsTer10
ENST00000682635.1:n.741_742del
ENST00000345378.7:c.258_259del	ENSP00000223366.2:p.Arg86SerfsTer10
ENST00000403799.8:c.255_256del MANE Select	ENSP00000384247.3:p.Arg85SerfsTer10
ENST00000671824.1:c.255_256del	ENSP00000500264.1:p.Arg85SerfsTer10
ENST00000673284.1:c.255_256del	ENSP00000499852.1:p.Arg85SerfsTer10
ENST00000345378.6:c.258_259del	ENSP00000223366.2:p.Arg86SerfsTer10
ENST00000395796.7:c.252_253del	ENSP00000379142.3:p.Arg84SerfsTer10
ENST00000403799.7:c.255_256del	ENSP00000384247.3:p.Arg85SerfsTer10
ENST00000437084.1:c.255_256del	ENSP00000402840.1:p.Arg85SerfsTer10
ENST00000616242.4:c.252_253del	ENSP00000482149.1:p.Arg84SerfsTer10
NM_000162.3:c.255_256del	NP_000153.1:p.Arg85SerfsTer10
NM_033507.1:c.258_259del	NP_277042.1:p.Arg86SerfsTer10
NM_033508.1:c.252_253del	NP_277043.1:p.Arg84SerfsTer10
NM_000162.4:c.255_256del	NP_000153.1:p.Arg85SerfsTer10
NM_001354800.1:c.255_256del	NP_001341729.1:p.Arg85SerfsTer10
NM_033507.2:c.258_259del	NP_277042.1:p.Arg86SerfsTer10
NM_033508.2:c.252_253del	NP_277043.1:p.Arg84SerfsTer10
NM_000162.5:c.255_256del MANE Select	NP_000153.1:p.Arg85SerfsTer10
NM_033507.3:c.258_259del	NP_277042.1:p.Arg86SerfsTer10
NM_033508.3:c.252_253del	NP_277043.1:p.Arg84SerfsTer10