Canonical Allele Identifier: CA915944917

Gene: GCK

Linked Data

• ClinVar Variation Id: 804860
• ClinVar RCV Id: RCV000992067 ; RCV002463768
• dbSNP Id: rs1583596063

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147660del , CM000669.2:g.44147660del	GRCh38
NC_000007.13:g.44187259del , CM000669.1:g.44187259del	GRCh37
NC_000007.12:g.44153784del	NCBI36
NG_008847.1:g.46765del
NG_008847.2:g.55512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*852del	ENSP00000379142.4:n.*852del
ENST00000616242.5:c.853+1del
ENST00000345378.7:c.857del	ENSP00000223366.2:p.Gly286ValfsTer9
ENST00000403799.8:c.854del MANE Select	ENSP00000384247.3:p.Gly285ValfsTer9
ENST00000671824.1:c.853+1del
ENST00000673284.1:c.854del	ENSP00000499852.1:p.Gly285ValfsTer9
ENST00000345378.6:c.857del	ENSP00000223366.2:p.Gly286ValfsTer9
ENST00000395796.7:c.851del	ENSP00000379142.3:p.Gly284ValfsTer9
ENST00000403799.7:c.854del	ENSP00000384247.3:p.Gly285ValfsTer9
ENST00000437084.1:c.803del	ENSP00000402840.1:p.Gly268ValfsTer9
ENST00000616242.4:c.851del	ENSP00000482149.1:p.Gly284ValfsTer9
NM_000162.3:c.854del	NP_000153.1:p.Gly285ValfsTer9
NM_033507.1:c.857del	NP_277042.1:p.Gly286ValfsTer9
NM_033508.1:c.851del	NP_277043.1:p.Gly284ValfsTer9
NM_000162.4:c.854del	NP_000153.1:p.Gly285ValfsTer9
NM_001354800.1:c.854del	NP_001341729.1:p.Gly285ValfsTer9
NM_033507.2:c.857del	NP_277042.1:p.Gly286ValfsTer9
NM_033508.2:c.851del	NP_277043.1:p.Gly284ValfsTer9
NM_000162.5:c.854del MANE Select	NP_000153.1:p.Gly285ValfsTer9
NM_033507.3:c.857del	NP_277042.1:p.Gly286ValfsTer9
NM_033508.3:c.851del	NP_277043.1:p.Gly284ValfsTer9