Canonical Allele Identifier: CA2573105963
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2578358
ClinVar RCV Id: RCV003326084
ERepo: CA2573105963/MONDO:0015967/086
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145190_44145191del , CM000669.2:g.44145190_44145191del GRCh38
NC_000007.13:g.44184789_44184790del , CM000669.1:g.44184789_44184790del GRCh37
NC_000007.12:g.44151314_44151315del NCBI36
NG_008847.1:g.49236_49237del
NG_008847.2:g.57983_57984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1344_*1345del ENSP00000379142.4:n.*1344_*1345del
ENST00000616242.5:c.*466_*467del ENSP00000482149.2:n.*466_*467del
ENST00000683378.1:n.572_573del
ENST00000336642.9:c.380_381del ENSP00000338009.5:p.Ala127GlyfsTer9
ENST00000345378.7:c.1349_1350del ENSP00000223366.2:p.Ala450GlyfsTer9
ENST00000403799.8:c.1346_1347del MANE Select ENSP00000384247.3:p.Ala449GlyfsTer9
ENST00000671824.1:c.1409_1410del ENSP00000500264.1:p.Ala470GlyfsTer9
ENST00000672743.1:n.358_359del
ENST00000673284.1:c.1346_1347del ENSP00000499852.1:p.Ala449GlyfsTer22
ENST00000336642.8:c.398_399del ENSP00000338009.4:p.Ala133GlyfsTer9
ENST00000345378.6:c.1349_1350del ENSP00000223366.2:p.Ala450GlyfsTer9
ENST00000395796.7:c.1343_1344del ENSP00000379142.3:p.Ala448GlyfsTer9
ENST00000403799.7:c.1346_1347del ENSP00000384247.3:p.Ala449GlyfsTer9
ENST00000437084.1:c.1295_1296del ENSP00000402840.1:p.Ala432GlyfsTer9
ENST00000459642.1:n.726_727del
ENST00000616242.4:c.1343_1344del ENSP00000482149.1:p.Ala448GlyfsTer9
NM_000162.3:c.1346_1347del NP_000153.1:p.Ala449GlyfsTer9
NM_033507.1:c.1349_1350del NP_277042.1:p.Ala450GlyfsTer9
NM_033508.1:c.1343_1344del NP_277043.1:p.Ala448GlyfsTer9
NM_000162.4:c.1346_1347del NP_000153.1:p.Ala449GlyfsTer9
NM_001354800.1:c.1346_1347del NP_001341729.1:p.Ala449GlyfsTer22
NM_001354801.1:c.335_336del NP_001341730.1:p.Ala112GlyfsTer9
NM_001354802.1:c.206_207del NP_001341731.1:p.Ala69GlyfsTer22
NM_001354803.1:c.380_381del NP_001341732.1:p.Ala127GlyfsTer9
NM_033507.2:c.1349_1350del NP_277042.1:p.Ala450GlyfsTer9
NM_033508.2:c.1343_1344del NP_277043.1:p.Ala448GlyfsTer9
XM_024446707.1:c.206_207del XP_024302475.1:p.Ala69GlyfsTer9
NM_000162.5:c.1346_1347del MANE Select NP_000153.1:p.Ala449GlyfsTer9
NM_033507.3:c.1349_1350del NP_277042.1:p.Ala450GlyfsTer9
NM_033508.3:c.1343_1344del NP_277043.1:p.Ala448GlyfsTer9
NM_001354803.2:c.380_381del NP_001341732.1:p.Ala127GlyfsTer9
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