Canonical Allele Identifier: CA2695203113
Gene: GCK HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147778del , CM000669.2:g.44147778del GRCh38
NC_000007.13:g.44187377del , CM000669.1:g.44187377del GRCh37
NC_000007.12:g.44153902del NCBI36
NG_008847.1:g.46650del
NG_008847.2:g.55397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*737del ENSP00000379142.4:n.*737del
ENST00000616242.5:c.739del ENSP00000482149.2:p.Asp247ThrfsTer?
ENST00000345378.7:c.742del ENSP00000223366.2:p.Asp248ThrfsTer?
ENST00000403799.8:c.739del MANE Select ENSP00000384247.3:p.Asp247ThrfsTer?
ENST00000671824.1:c.739del ENSP00000500264.1:p.Asp247ThrfsTer?
ENST00000673284.1:c.739del ENSP00000499852.1:p.Asp247ThrfsTer?
ENST00000345378.6:c.742del ENSP00000223366.2:p.Asp248ThrfsTer?
ENST00000395796.7:c.736del ENSP00000379142.3:p.Asp246ThrfsTer?
ENST00000403799.7:c.739del ENSP00000384247.3:p.Asp247ThrfsTer?
ENST00000437084.1:c.688del ENSP00000402840.1:p.Asp230ThrfsTer?
ENST00000616242.4:c.736del ENSP00000482149.1:p.Asp246ThrfsTer?
NM_000162.3:c.739del NP_000153.1:p.Asp247ThrfsTer?
NM_033507.1:c.742del NP_277042.1:p.Asp248ThrfsTer?
NM_033508.1:c.736del NP_277043.1:p.Asp246ThrfsTer?
XR_927223.1:n.82+30del
NM_000162.4:c.739del NP_000153.1:p.Asp247ThrfsTer?
NM_001354800.1:c.739del NP_001341729.1:p.Asp247ThrfsTer?
NM_033507.2:c.742del NP_277042.1:p.Asp248ThrfsTer?
NM_033508.2:c.736del NP_277043.1:p.Asp246ThrfsTer?
XR_927223.2:n.82+30del
NM_000162.5:c.739del MANE Select NP_000153.1:p.Asp247ThrfsTer?
NM_033507.3:c.742del NP_277042.1:p.Asp248ThrfsTer?
NM_033508.3:c.736del NP_277043.1:p.Asp246ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'