Canonical Allele Identifier: CA658655966

Gene: GCK

Linked Data

• ClinVar Variation Id: 447415
• ClinVar RCV Id: RCV000518045 ; RCV002463705
• dbSNP Id: rs1554335128
• MyVariant Identifiers: chr7:g.44187333_44187349dup (hg19) ; chr7:g.44147734_44147750dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147735_44147751dup , CM000669.2:g.44147735_44147751dup	GRCh38
NC_000007.13:g.44187334_44187350dup , CM000669.1:g.44187334_44187350dup	GRCh37
NC_000007.12:g.44153859_44153875dup	NCBI36
NG_008847.1:g.46674_46690dup
NG_008847.2:g.55421_55437dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*761_*777dup	ENSP00000379142.4:n.*761_*777dup
ENST00000616242.5:c.763_779dup	ENSP00000482149.2:p.Phe260LeufsTer33
ENST00000345378.7:c.766_782dup	ENSP00000223366.2:p.Phe261LeufsTer?
ENST00000403799.8:c.763_779dup MANE Select	ENSP00000384247.3:p.Phe260LeufsTer?
ENST00000671824.1:c.763_779dup	ENSP00000500264.1:p.Phe260LeufsTer?
ENST00000673284.1:c.763_779dup	ENSP00000499852.1:p.Phe260LeufsTer?
ENST00000345378.6:c.766_782dup	ENSP00000223366.2:p.Phe261LeufsTer?
ENST00000395796.7:c.760_776dup	ENSP00000379142.3:p.Phe259LeufsTer?
ENST00000403799.7:c.763_779dup	ENSP00000384247.3:p.Phe260LeufsTer?
ENST00000437084.1:c.712_728dup	ENSP00000402840.1:p.Phe243LeufsTer?
ENST00000616242.4:c.760_776dup	ENSP00000482149.1:p.Phe259LeufsTer?
NM_000162.3:c.763_779dup	NP_000153.1:p.Phe260LeufsTer?
NM_033507.1:c.766_782dup	NP_277042.1:p.Phe261LeufsTer?
NM_033508.1:c.760_776dup	NP_277043.1:p.Phe259LeufsTer?
XR_927223.1:n.69_82+3dup
NM_000162.4:c.763_779dup	NP_000153.1:p.Phe260LeufsTer?
NM_001354800.1:c.763_779dup	NP_001341729.1:p.Phe260LeufsTer?
NM_033507.2:c.766_782dup	NP_277042.1:p.Phe261LeufsTer?
NM_033508.2:c.760_776dup	NP_277043.1:p.Phe259LeufsTer?
XR_927223.2:n.69_82+3dup
NM_000162.5:c.763_779dup MANE Select	NP_000153.1:p.Phe260LeufsTer?
NM_033507.3:c.766_782dup	NP_277042.1:p.Phe261LeufsTer?
NM_033508.3:c.760_776dup	NP_277043.1:p.Phe259LeufsTer?