Canonical Allele Identifier: CA2580612101
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3234000
ClinVar RCV Id: RCV004527576
ERepo: CA2580612101/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145622_44145623del , CM000669.2:g.44145622_44145623del GRCh38
NC_000007.13:g.44185221_44185222del , CM000669.1:g.44185221_44185222del GRCh37
NC_000007.12:g.44151746_44151747del NCBI36
NG_008847.1:g.48806_48807del
NG_008847.2:g.57553_57554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1130_*1131del ENSP00000379142.4:n.*1130_*1131del
ENST00000616242.5:c.*252_*253del ENSP00000482149.2:n.*252_*253del
ENST00000683378.1:n.358_359del
ENST00000336642.9:c.166_167del ENSP00000338009.5:p.Ala56CysfsTer?
ENST00000345378.7:c.1135_1136del ENSP00000223366.2:p.Ala379CysfsTer?
ENST00000403799.8:c.1132_1133del MANE Select ENSP00000384247.3:p.Ala378CysfsTer?
ENST00000671824.1:c.1195_1196del ENSP00000500264.1:p.Ala399CysfsTer?
ENST00000672743.1:n.144_145del
ENST00000673284.1:c.1132_1133del ENSP00000499852.1:p.Ala378CysfsTer?
ENST00000336642.8:c.184_185del ENSP00000338009.4:p.Ala62CysfsTer?
ENST00000345378.6:c.1135_1136del ENSP00000223366.2:p.Ala379CysfsTer?
ENST00000395796.7:c.1129_1130del ENSP00000379142.3:p.Ala377CysfsTer?
ENST00000403799.7:c.1132_1133del ENSP00000384247.3:p.Ala378CysfsTer?
ENST00000437084.1:c.1081_1082del ENSP00000402840.1:p.Ala361CysfsTer?
ENST00000459642.1:n.512_513del
ENST00000616242.4:c.1129_1130del ENSP00000482149.1:p.Ala377CysfsTer?
NM_000162.3:c.1132_1133del NP_000153.1:p.Ala378CysfsTer?
NM_033507.1:c.1135_1136del NP_277042.1:p.Ala379CysfsTer?
NM_033508.1:c.1129_1130del NP_277043.1:p.Ala377CysfsTer?
NM_000162.4:c.1132_1133del NP_000153.1:p.Ala378CysfsTer?
NM_001354800.1:c.1132_1133del NP_001341729.1:p.Ala378CysfsTer?
NM_001354801.1:c.121_122del NP_001341730.1:p.Ala41CysfsTer?
NM_001354802.1:c.-9_-8del NP_001341731.1:n.-9_-8del
NM_001354803.1:c.166_167del NP_001341732.1:p.Ala56CysfsTer?
NM_033507.2:c.1135_1136del NP_277042.1:p.Ala379CysfsTer?
NM_033508.2:c.1129_1130del NP_277043.1:p.Ala377CysfsTer?
XM_024446707.1:c.-9_-8del XP_024302475.1:n.-9_-8del
NM_000162.5:c.1132_1133del MANE Select NP_000153.1:p.Ala378CysfsTer?
NM_033507.3:c.1135_1136del NP_277042.1:p.Ala379CysfsTer?
NM_033508.3:c.1129_1130del NP_277043.1:p.Ala377CysfsTer?
NM_001354803.2:c.166_167del NP_001341732.1:p.Ala56CysfsTer?
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