Canonical Allele Identifier: CA213781
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36216
ClinVar RCV Id: RCV000029879 RCV002371785
dbSNP Id: rs193922295
MyVariant Identifiers: chr7:g.44190645del (hg19) chr7:g.44151046del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151047del , CM000669.2:g.44151047del GRCh38
NC_000007.13:g.44190646del , CM000669.1:g.44190646del GRCh37
NC_000007.12:g.44157171del NCBI36
NG_008847.1:g.43378del
NG_008847.2:g.52125del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*391del ENSP00000379142.4:n.*391del
ENST00000616242.5:c.393del ENSP00000482149.2:p.Asp132ThrfsTer8
ENST00000682635.1:n.879del
ENST00000345378.7:c.396del ENSP00000223366.2:p.Asp133ThrfsTer8
ENST00000403799.8:c.393del MANE Select ENSP00000384247.3:p.Asp132ThrfsTer8
ENST00000671824.1:c.393del ENSP00000500264.1:p.Asp132ThrfsTer8
ENST00000673284.1:c.393del ENSP00000499852.1:p.Asp132ThrfsTer8
ENST00000345378.6:c.396del ENSP00000223366.2:p.Asp133ThrfsTer8
ENST00000395796.7:c.390del ENSP00000379142.3:p.Asp131ThrfsTer8
ENST00000403799.7:c.393del ENSP00000384247.3:p.Asp132ThrfsTer8
ENST00000437084.1:c.364-22del ENSP00000402840.1:n.364-22del
ENST00000616242.4:c.390del ENSP00000482149.1:p.Asp131ThrfsTer8
NM_000162.3:c.393del NP_000153.1:p.Asp132ThrfsTer8
NM_033507.1:c.396del NP_277042.1:p.Asp133ThrfsTer8
NM_033508.1:c.390del NP_277043.1:p.Asp131ThrfsTer8
NM_000162.4:c.393del NP_000153.1:p.Asp132ThrfsTer8
NM_001354800.1:c.393del NP_001341729.1:p.Asp132ThrfsTer8
NM_033507.2:c.396del NP_277042.1:p.Asp133ThrfsTer8
NM_033508.2:c.390del NP_277043.1:p.Asp131ThrfsTer8
NM_000162.5:c.393del MANE Select NP_000153.1:p.Asp132ThrfsTer8
NM_033507.3:c.396del NP_277042.1:p.Asp133ThrfsTer8
NM_033508.3:c.390del NP_277043.1:p.Asp131ThrfsTer8
Search 100 bp 5'
Search 100 bp 3'