Canonical Allele Identifier: CA2580612102
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2682417
ClinVar RCV Id: RCV003479790
ERepo: CA2580612102/MONDO:0015967/086
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145713_44145722del , CM000669.2:g.44145713_44145722del GRCh38
NC_000007.13:g.44185312_44185321del , CM000669.1:g.44185312_44185321del GRCh37
NC_000007.12:g.44151837_44151846del NCBI36
NG_008847.1:g.48704_48713del
NG_008847.2:g.57451_57460del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1028_*1037del ENSP00000379142.4:n.*1028_*1037del
ENST00000616242.5:c.*150_*159del ENSP00000482149.2:n.*150_*159del
ENST00000683378.1:n.256_265del
ENST00000336642.9:c.64_73del ENSP00000338009.5:p.Asp22ArgfsTer6
ENST00000345378.7:c.1033_1042del ENSP00000223366.2:p.Asp345ArgfsTer6
ENST00000403799.8:c.1030_1039del MANE Select ENSP00000384247.3:p.Asp344ArgfsTer6
ENST00000671824.1:c.1093_1102del ENSP00000500264.1:p.Asp365ArgfsTer6
ENST00000672743.1:n.42_51del
ENST00000673284.1:c.1030_1039del ENSP00000499852.1:p.Asp344ArgfsTer6
ENST00000336642.8:c.82_91del ENSP00000338009.4:p.Asp28ArgfsTer6
ENST00000345378.6:c.1033_1042del ENSP00000223366.2:p.Asp345ArgfsTer6
ENST00000395796.7:c.1027_1036del ENSP00000379142.3:p.Asp343ArgfsTer6
ENST00000403799.7:c.1030_1039del ENSP00000384247.3:p.Asp344ArgfsTer6
ENST00000437084.1:c.979_988del ENSP00000402840.1:p.Asp327ArgfsTer6
ENST00000459642.1:n.410_419del
ENST00000473353.1:n.328_337del
ENST00000616242.4:c.1027_1036del ENSP00000482149.1:p.Asp343ArgfsTer6
NM_000162.3:c.1030_1039del NP_000153.1:p.Asp344ArgfsTer6
NM_033507.1:c.1033_1042del NP_277042.1:p.Asp345ArgfsTer6
NM_033508.1:c.1027_1036del NP_277043.1:p.Asp343ArgfsTer6
NM_000162.4:c.1030_1039del NP_000153.1:p.Asp344ArgfsTer6
NM_001354800.1:c.1030_1039del NP_001341729.1:p.Asp344ArgfsTer6
NM_001354801.1:c.19_28del NP_001341730.1:p.Asp7ArgfsTer6
NM_001354802.1:c.-111_-102del NP_001341731.1:n.-111_-102del
NM_001354803.1:c.64_73del NP_001341732.1:p.Asp22ArgfsTer6
NM_033507.2:c.1033_1042del NP_277042.1:p.Asp345ArgfsTer6
NM_033508.2:c.1027_1036del NP_277043.1:p.Asp343ArgfsTer6
XM_024446707.1:c.-111_-102del XP_024302475.1:n.-111_-102del
NM_000162.5:c.1030_1039del MANE Select NP_000153.1:p.Asp344ArgfsTer6
NM_033507.3:c.1033_1042del NP_277042.1:p.Asp345ArgfsTer6
NM_033508.3:c.1027_1036del NP_277043.1:p.Asp343ArgfsTer6
NM_001354803.2:c.64_73del NP_001341732.1:p.Asp22ArgfsTer6
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