Canonical Allele Identifier: CA1139771343
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2628361
ClinVar RCV Id: RCV003397216

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145234_44145237dup , CM000669.2:g.44145234_44145237dup GRCh38
NC_000007.13:g.44184833_44184836dup , CM000669.1:g.44184833_44184836dup GRCh37
NC_000007.12:g.44151358_44151361dup NCBI36
NG_008847.1:g.49187_49190dup
NG_008847.2:g.57934_57937dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1295_*1298dup ENSP00000379142.4:n.*1295_*1298dup
ENST00000616242.5:c.*417_*420dup ENSP00000482149.2:n.*417_*420dup
ENST00000683378.1:n.523_526dup
ENST00000336642.9:c.331_334dup ENSP00000338009.5:p.Cys112Ter
ENST00000345378.7:c.1300_1303dup ENSP00000223366.2:p.Cys435Ter
ENST00000403799.8:c.1297_1300dup MANE Select ENSP00000384247.3:p.Cys434Ter
ENST00000671824.1:c.1360_1363dup ENSP00000500264.1:p.Cys455Ter
ENST00000672743.1:n.309_312dup
ENST00000673284.1:c.1297_1300dup ENSP00000499852.1:p.Cys434Ter
ENST00000336642.8:c.349_352dup ENSP00000338009.4:p.Cys118Ter
ENST00000345378.6:c.1300_1303dup ENSP00000223366.2:p.Cys435Ter
ENST00000395796.7:c.1294_1297dup ENSP00000379142.3:p.Cys433Ter
ENST00000403799.7:c.1297_1300dup ENSP00000384247.3:p.Cys434Ter
ENST00000437084.1:c.1246_1249dup ENSP00000402840.1:p.Cys417Ter
ENST00000459642.1:n.677_680dup
ENST00000616242.4:c.1294_1297dup ENSP00000482149.1:p.Cys433Ter
NM_000162.3:c.1297_1300dup NP_000153.1:p.Cys434Ter
NM_033507.1:c.1300_1303dup NP_277042.1:p.Cys435Ter
NM_033508.1:c.1294_1297dup NP_277043.1:p.Cys433Ter
NM_000162.4:c.1297_1300dup NP_000153.1:p.Cys434Ter
NM_001354800.1:c.1297_1300dup NP_001341729.1:p.Cys434Ter
NM_001354801.1:c.286_289dup NP_001341730.1:p.Cys97Ter
NM_001354802.1:c.157_160dup NP_001341731.1:p.Cys54Ter
NM_001354803.1:c.331_334dup NP_001341732.1:p.Cys112Ter
NM_033507.2:c.1300_1303dup NP_277042.1:p.Cys435Ter
NM_033508.2:c.1294_1297dup NP_277043.1:p.Cys433Ter
XM_024446707.1:c.157_160dup XP_024302475.1:p.Cys54Ter
NM_000162.5:c.1297_1300dup MANE Select NP_000153.1:p.Cys434Ter
NM_033507.3:c.1300_1303dup NP_277042.1:p.Cys435Ter
NM_033508.3:c.1294_1297dup NP_277043.1:p.Cys433Ter
NM_001354803.2:c.331_334dup NP_001341732.1:p.Cys112Ter