Canonical Allele Identifier: CA2499218897

Gene: GCK

Linked Data

• ClinVar Variation Id: 1254640
• ClinVar RCV Id: RCV001658822
• dbSNP Id: rs886041690

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44153363del , CM000669.2:g.44153363del	GRCh38
NC_000007.13:g.44192962del , CM000669.1:g.44192962del	GRCh37
NC_000007.12:g.44159487del	NCBI36
NG_008847.1:g.41063del
NG_008847.2:g.49810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*146del	ENSP00000379142.4:n.*146del
ENST00000616242.5:c.148del	ENSP00000482149.2:p.His50MetfsTer6
ENST00000682635.1:n.634del
ENST00000345378.7:c.151del	ENSP00000223366.2:p.His51MetfsTer6
ENST00000403799.8:c.148del MANE Select	ENSP00000384247.3:p.His50MetfsTer6
ENST00000671824.1:c.148del	ENSP00000500264.1:p.His50MetfsTer6
ENST00000673284.1:c.148del	ENSP00000499852.1:p.His50MetfsTer6
ENST00000345378.6:c.151del	ENSP00000223366.2:p.His51MetfsTer6
ENST00000395796.7:c.145del	ENSP00000379142.3:p.His49MetfsTer6
ENST00000403799.7:c.148del	ENSP00000384247.3:p.His50MetfsTer6
ENST00000437084.1:c.148del	ENSP00000402840.1:p.His50MetfsTer6
ENST00000616242.4:c.145del	ENSP00000482149.1:p.His49MetfsTer6
NM_000162.3:c.148del	NP_000153.1:p.His50MetfsTer6
NM_033507.1:c.151del	NP_277042.1:p.His51MetfsTer6
NM_033508.1:c.145del	NP_277043.1:p.His49MetfsTer6
NM_000162.4:c.148del	NP_000153.1:p.His50MetfsTer6
NM_001354800.1:c.148del	NP_001341729.1:p.His50MetfsTer6
NM_033507.2:c.151del	NP_277042.1:p.His51MetfsTer6
NM_033508.2:c.145del	NP_277043.1:p.His49MetfsTer6
NM_000162.5:c.148del MANE Select	NP_000153.1:p.His50MetfsTer6
NM_033507.3:c.151del	NP_277042.1:p.His51MetfsTer6
NM_033508.3:c.145del	NP_277043.1:p.His49MetfsTer6