Canonical Allele Identifier: CA1139660055
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 995103
ClinVar RCV Id: RCV001288977 RCV002287491 RCV003399057
dbSNP Id: rs2096270699
ERepo: CA1139660055/MONDO:0007453/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145254_44145257dup , CM000669.2:g.44145254_44145257dup GRCh38
NC_000007.13:g.44184853_44184856dup , CM000669.1:g.44184853_44184856dup GRCh37
NC_000007.12:g.44151378_44151381dup NCBI36
NG_008847.1:g.49170_49173dup
NG_008847.2:g.57917_57920dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1278_*1281dup ENSP00000379142.4:n.*1278_*1281dup
ENST00000616242.5:c.*400_*403dup ENSP00000482149.2:n.*400_*403dup
ENST00000683378.1:n.506_509dup
ENST00000336642.9:c.314_317dup ENSP00000338009.5:p.Arg107AlafsTer31
ENST00000345378.7:c.1283_1286dup ENSP00000223366.2:p.Arg430AlafsTer31
ENST00000403799.8:c.1280_1283dup MANE Select ENSP00000384247.3:p.Arg429AlafsTer31
ENST00000671824.1:c.1343_1346dup ENSP00000500264.1:p.Arg450AlafsTer31
ENST00000672743.1:n.292_295dup
ENST00000673284.1:c.1280_1283dup ENSP00000499852.1:p.Arg429AlafsTer?
ENST00000336642.8:c.332_335dup ENSP00000338009.4:p.Arg113AlafsTer31
ENST00000345378.6:c.1283_1286dup ENSP00000223366.2:p.Arg430AlafsTer31
ENST00000395796.7:c.1277_1280dup ENSP00000379142.3:p.Arg428AlafsTer31
ENST00000403799.7:c.1280_1283dup ENSP00000384247.3:p.Arg429AlafsTer31
ENST00000437084.1:c.1229_1232dup ENSP00000402840.1:p.Arg412AlafsTer31
ENST00000459642.1:n.660_663dup
ENST00000616242.4:c.1277_1280dup ENSP00000482149.1:p.Arg428AlafsTer31
NM_000162.3:c.1280_1283dup NP_000153.1:p.Arg429AlafsTer31
NM_033507.1:c.1283_1286dup NP_277042.1:p.Arg430AlafsTer31
NM_033508.1:c.1277_1280dup NP_277043.1:p.Arg428AlafsTer31
NM_000162.4:c.1280_1283dup NP_000153.1:p.Arg429AlafsTer31
NM_001354800.1:c.1280_1283dup NP_001341729.1:p.Arg429AlafsTer?
NM_001354801.1:c.269_272dup NP_001341730.1:p.Arg92AlafsTer31
NM_001354802.1:c.140_143dup NP_001341731.1:p.Arg49AlafsTer?
NM_001354803.1:c.314_317dup NP_001341732.1:p.Arg107AlafsTer31
NM_033507.2:c.1283_1286dup NP_277042.1:p.Arg430AlafsTer31
NM_033508.2:c.1277_1280dup NP_277043.1:p.Arg428AlafsTer31
XM_024446707.1:c.140_143dup XP_024302475.1:p.Arg49AlafsTer31
NM_000162.5:c.1280_1283dup MANE Select NP_000153.1:p.Arg429AlafsTer31
NM_033507.3:c.1283_1286dup NP_277042.1:p.Arg430AlafsTer31
NM_033508.3:c.1277_1280dup NP_277043.1:p.Arg428AlafsTer31
NM_001354803.2:c.314_317dup NP_001341732.1:p.Arg107AlafsTer31
Search 100 bp 5'
Search 100 bp 3'