Canonical Allele Identifier: CA213699
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 36166
dbSNP Id: rs193922254

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44146479del , CM000669.2:g.44146479del GRCh38
NC_000007.13:g.44186078del , CM000669.1:g.44186078del GRCh37
NC_000007.12:g.44152603del NCBI36
NG_008847.1:g.47945del
NG_008847.2:g.56692del

Transcript Alleles

HGVS Amino-acid change
ENST00000395796.8:c.*1001del ENSP00000379142.4:n.*1001del
ENST00000616242.5:c.*123del ENSP00000482149.2:n.*123del
ENST00000683378.1:n.229del
ENST00000345378.7:c.1006del ENSP00000223366.2:p.Val336CysfsTer18
ENST00000403799.8:c.1003del MANE Select ENSP00000384247.3:p.Val335CysfsTer18
ENST00000671824.1:c.1066del ENSP00000500264.1:p.Val356CysfsTer18
ENST00000673284.1:c.1003del ENSP00000499852.1:p.Val335CysfsTer18
ENST00000345378.6:c.1006del ENSP00000223366.2:p.Val336CysfsTer18
ENST00000395796.7:c.1000del ENSP00000379142.3:p.Val334CysfsTer18
ENST00000403799.7:c.1003del ENSP00000384247.3:p.Val335CysfsTer18
ENST00000437084.1:c.952del ENSP00000402840.1:p.Val318CysfsTer18
ENST00000473353.1:n.301del
ENST00000616242.4:c.1000del ENSP00000482149.1:p.Val334CysfsTer18
NM_000162.3:c.1003del NP_000153.1:p.Val335CysfsTer18
NM_033507.1:c.1006del NP_277042.1:p.Val336CysfsTer18
NM_033508.1:c.1000del NP_277043.1:p.Val334CysfsTer18
NM_000162.4:c.1003del NP_000153.1:p.Val335CysfsTer18
NM_001354800.1:c.1003del NP_001341729.1:p.Val335CysfsTer18
NM_001354801.1:c.8+140del NP_001341730.1:n.8+140del
NM_033507.2:c.1006del NP_277042.1:p.Val336CysfsTer18
NM_033508.2:c.1000del NP_277043.1:p.Val334CysfsTer18
NM_000162.5:c.1003del MANE Select NP_000153.1:p.Val335CysfsTer18
NM_033507.3:c.1006del NP_277042.1:p.Val336CysfsTer18
NM_033508.3:c.1000del NP_277043.1:p.Val334CysfsTer18