Canonical Allele Identifier: CA2573052876
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1338620
ClinVar RCV Id: RCV001817991
dbSNP Id: rs2128819113

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145505del , CM000669.2:g.44145505del GRCh38
NC_000007.13:g.44185104del , CM000669.1:g.44185104del GRCh37
NC_000007.12:g.44151629del NCBI36
NG_008847.1:g.48919del
NG_008847.2:g.57666del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1243del ENSP00000379142.4:n.*1243del
ENST00000616242.5:c.*365del ENSP00000482149.2:n.*365del
ENST00000683378.1:n.471del
ENST00000336642.9:c.279del ENSP00000338009.5:p.His94ThrfsTer15
ENST00000345378.7:c.1248del ENSP00000223366.2:p.His417ThrfsTer15
ENST00000403799.8:c.1245del MANE Select ENSP00000384247.3:p.His416ThrfsTer15
ENST00000671824.1:c.1308del ENSP00000500264.1:p.His437ThrfsTer15
ENST00000672743.1:n.257del
ENST00000673284.1:c.1245del ENSP00000499852.1:p.His416ThrfsTer15
ENST00000336642.8:c.297del ENSP00000338009.4:p.His100ThrfsTer15
ENST00000345378.6:c.1248del ENSP00000223366.2:p.His417ThrfsTer15
ENST00000395796.7:c.1242del ENSP00000379142.3:p.His415ThrfsTer15
ENST00000403799.7:c.1245del ENSP00000384247.3:p.His416ThrfsTer15
ENST00000437084.1:c.1194del ENSP00000402840.1:p.His399ThrfsTer15
ENST00000459642.1:n.625del
ENST00000616242.4:c.1242del ENSP00000482149.1:p.His415ThrfsTer15
NM_000162.3:c.1245del NP_000153.1:p.His416ThrfsTer15
NM_033507.1:c.1248del NP_277042.1:p.His417ThrfsTer15
NM_033508.1:c.1242del NP_277043.1:p.His415ThrfsTer15
NM_000162.4:c.1245del NP_000153.1:p.His416ThrfsTer15
NM_001354800.1:c.1245del NP_001341729.1:p.His416ThrfsTer15
NM_001354801.1:c.234del NP_001341730.1:p.His79ThrfsTer15
NM_001354802.1:c.105del NP_001341731.1:p.His36ThrfsTer15
NM_001354803.1:c.279del NP_001341732.1:p.His94ThrfsTer15
NM_033507.2:c.1248del NP_277042.1:p.His417ThrfsTer15
NM_033508.2:c.1242del NP_277043.1:p.His415ThrfsTer15
XM_024446707.1:c.105del XP_024302475.1:p.His36ThrfsTer15
NM_000162.5:c.1245del MANE Select NP_000153.1:p.His416ThrfsTer15
NM_033507.3:c.1248del NP_277042.1:p.His417ThrfsTer15
NM_033508.3:c.1242del NP_277043.1:p.His415ThrfsTer15
NM_001354803.2:c.279del NP_001341732.1:p.His94ThrfsTer15