Canonical Allele Identifier: CA1139771800
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1301411
ClinVar RCV Id: RCV001732836 RCV003313229
dbSNP Id: rs2128818859
ERepo: CA1139771800/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145256_44145257del , CM000669.2:g.44145256_44145257del GRCh38
NC_000007.13:g.44184855_44184856del , CM000669.1:g.44184855_44184856del GRCh37
NC_000007.12:g.44151380_44151381del NCBI36
NG_008847.1:g.49168_49169del
NG_008847.2:g.57915_57916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1276_*1277del ENSP00000379142.4:n.*1276_*1277del
ENST00000616242.5:c.*398_*399del ENSP00000482149.2:n.*398_*399del
ENST00000683378.1:n.504_505del
ENST00000336642.9:c.312_313del ENSP00000338009.5:p.Val105AlafsTer?
ENST00000345378.7:c.1281_1282del ENSP00000223366.2:p.Val428AlafsTer?
ENST00000403799.8:c.1278_1279del MANE Select ENSP00000384247.3:p.Val427AlafsTer?
ENST00000671824.1:c.1341_1342del ENSP00000500264.1:p.Val448AlafsTer?
ENST00000672743.1:n.290_291del
ENST00000673284.1:c.1278_1279del ENSP00000499852.1:p.Val427AlafsTer?
ENST00000336642.8:c.330_331del ENSP00000338009.4:p.Val111AlafsTer?
ENST00000345378.6:c.1281_1282del ENSP00000223366.2:p.Val428AlafsTer?
ENST00000395796.7:c.1275_1276del ENSP00000379142.3:p.Val426AlafsTer?
ENST00000403799.7:c.1278_1279del ENSP00000384247.3:p.Val427AlafsTer?
ENST00000437084.1:c.1227_1228del ENSP00000402840.1:p.Val410AlafsTer?
ENST00000459642.1:n.658_659del
ENST00000616242.4:c.1275_1276del ENSP00000482149.1:p.Val426AlafsTer?
NM_000162.3:c.1278_1279del NP_000153.1:p.Val427AlafsTer?
NM_033507.1:c.1281_1282del NP_277042.1:p.Val428AlafsTer?
NM_033508.1:c.1275_1276del NP_277043.1:p.Val426AlafsTer?
NM_000162.4:c.1278_1279del NP_000153.1:p.Val427AlafsTer?
NM_001354800.1:c.1278_1279del NP_001341729.1:p.Val427AlafsTer?
NM_001354801.1:c.267_268del NP_001341730.1:p.Val90AlafsTer?
NM_001354802.1:c.138_139del NP_001341731.1:p.Val47AlafsTer?
NM_001354803.1:c.312_313del NP_001341732.1:p.Val105AlafsTer?
NM_033507.2:c.1281_1282del NP_277042.1:p.Val428AlafsTer?
NM_033508.2:c.1275_1276del NP_277043.1:p.Val426AlafsTer?
XM_024446707.1:c.138_139del XP_024302475.1:p.Val47AlafsTer?
NM_000162.5:c.1278_1279del MANE Select NP_000153.1:p.Val427AlafsTer?
NM_033507.3:c.1281_1282del NP_277042.1:p.Val428AlafsTer?
NM_033508.3:c.1275_1276del NP_277043.1:p.Val426AlafsTer?
NM_001354803.2:c.312_313del NP_001341732.1:p.Val105AlafsTer?
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