Canonical Allele Identifier: CA2580077148
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1735443

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145594del , CM000669.2:g.44145594del GRCh38
NC_000007.13:g.44185193del , CM000669.1:g.44185193del GRCh37
NC_000007.12:g.44151718del NCBI36
NG_008847.1:g.48830del
NG_008847.2:g.57577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1154del ENSP00000379142.4:n.*1154del
ENST00000616242.5:c.*276del ENSP00000482149.2:n.*276del
ENST00000683378.1:n.382del
ENST00000336642.9:c.190del ENSP00000338009.5:p.Leu64TrpfsTer16
ENST00000345378.7:c.1159del ENSP00000223366.2:p.Leu387TrpfsTer16
ENST00000403799.8:c.1156del MANE Select ENSP00000384247.3:p.Leu386TrpfsTer16
ENST00000671824.1:c.1219del ENSP00000500264.1:p.Leu407TrpfsTer16
ENST00000672743.1:n.168del
ENST00000673284.1:c.1156del ENSP00000499852.1:p.Leu386TrpfsTer16
ENST00000336642.8:c.208del ENSP00000338009.4:p.Leu70TrpfsTer16
ENST00000345378.6:c.1159del ENSP00000223366.2:p.Leu387TrpfsTer16
ENST00000395796.7:c.1153del ENSP00000379142.3:p.Leu385TrpfsTer16
ENST00000403799.7:c.1156del ENSP00000384247.3:p.Leu386TrpfsTer16
ENST00000437084.1:c.1105del ENSP00000402840.1:p.Leu369TrpfsTer16
ENST00000459642.1:n.536del
ENST00000616242.4:c.1153del ENSP00000482149.1:p.Leu385TrpfsTer16
NM_000162.3:c.1156del NP_000153.1:p.Leu386TrpfsTer16
NM_033507.1:c.1159del NP_277042.1:p.Leu387TrpfsTer16
NM_033508.1:c.1153del NP_277043.1:p.Leu385TrpfsTer16
NM_000162.4:c.1156del NP_000153.1:p.Leu386TrpfsTer16
NM_001354800.1:c.1156del NP_001341729.1:p.Leu386TrpfsTer16
NM_001354801.1:c.145del NP_001341730.1:p.Leu49TrpfsTer16
NM_001354802.1:c.16del NP_001341731.1:p.Leu6TrpfsTer16
NM_001354803.1:c.190del NP_001341732.1:p.Leu64TrpfsTer16
NM_033507.2:c.1159del NP_277042.1:p.Leu387TrpfsTer16
NM_033508.2:c.1153del NP_277043.1:p.Leu385TrpfsTer16
XM_024446707.1:c.16del XP_024302475.1:p.Leu6TrpfsTer16
NM_000162.5:c.1156del MANE Select NP_000153.1:p.Leu386TrpfsTer16
NM_033507.3:c.1159del NP_277042.1:p.Leu387TrpfsTer16
NM_033508.3:c.1153del NP_277043.1:p.Leu385TrpfsTer16
NM_001354803.2:c.190del NP_001341732.1:p.Leu64TrpfsTer16