Canonical Allele Identifier: CA2580077134

Gene: GCK

Linked Data

• ClinVar Variation Id: 2033366
• ClinVar RCV Id: RCV002885182

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145214_44145221del , CM000669.2:g.44145214_44145221del	GRCh38
NC_000007.13:g.44184813_44184820del , CM000669.1:g.44184813_44184820del	GRCh37
NC_000007.12:g.44151338_44151345del	NCBI36
NG_008847.1:g.49205_49212del
NG_008847.2:g.57952_57959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1313_*1320del	ENSP00000379142.4:n.*1313_*1320del
ENST00000616242.5:c.*435_*442del	ENSP00000482149.2:n.*435_*442del
ENST00000683378.1:n.541_548del
ENST00000336642.9:c.349_356del	ENSP00000338009.5:p.Ile117GlyfsTer17
ENST00000345378.7:c.1318_1325del	ENSP00000223366.2:p.Ile440GlyfsTer17
ENST00000403799.8:c.1315_1322del MANE Select	ENSP00000384247.3:p.Ile439GlyfsTer17
ENST00000671824.1:c.1378_1385del	ENSP00000500264.1:p.Ile460GlyfsTer17
ENST00000672743.1:n.327_334del
ENST00000673284.1:c.1315_1322del	ENSP00000499852.1:p.Ile439GlyfsTer30
ENST00000336642.8:c.367_374del	ENSP00000338009.4:p.Ile123GlyfsTer17
ENST00000345378.6:c.1318_1325del	ENSP00000223366.2:p.Ile440GlyfsTer17
ENST00000395796.7:c.1312_1319del	ENSP00000379142.3:p.Ile438GlyfsTer17
ENST00000403799.7:c.1315_1322del	ENSP00000384247.3:p.Ile439GlyfsTer17
ENST00000437084.1:c.1264_1271del	ENSP00000402840.1:p.Ile422GlyfsTer17
ENST00000459642.1:n.695_702del
ENST00000616242.4:c.1312_1319del	ENSP00000482149.1:p.Ile438GlyfsTer17
NM_000162.3:c.1315_1322del	NP_000153.1:p.Ile439GlyfsTer17
NM_033507.1:c.1318_1325del	NP_277042.1:p.Ile440GlyfsTer17
NM_033508.1:c.1312_1319del	NP_277043.1:p.Ile438GlyfsTer17
NM_000162.4:c.1315_1322del	NP_000153.1:p.Ile439GlyfsTer17
NM_001354800.1:c.1315_1322del	NP_001341729.1:p.Ile439GlyfsTer30
NM_001354801.1:c.304_311del	NP_001341730.1:p.Ile102GlyfsTer17
NM_001354802.1:c.175_182del	NP_001341731.1:p.Ile59GlyfsTer30
NM_001354803.1:c.349_356del	NP_001341732.1:p.Ile117GlyfsTer17
NM_033507.2:c.1318_1325del	NP_277042.1:p.Ile440GlyfsTer17
NM_033508.2:c.1312_1319del	NP_277043.1:p.Ile438GlyfsTer17
XM_024446707.1:c.175_182del	XP_024302475.1:p.Ile59GlyfsTer17
NM_000162.5:c.1315_1322del MANE Select	NP_000153.1:p.Ile439GlyfsTer17
NM_033507.3:c.1318_1325del	NP_277042.1:p.Ile440GlyfsTer17
NM_033508.3:c.1312_1319del	NP_277043.1:p.Ile438GlyfsTer17
NM_001354803.2:c.349_356del	NP_001341732.1:p.Ile117GlyfsTer17