Canonical Allele Identifier: CA2017997767

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571643
• ClinVar RCV Id: RCV003313353
• ERepo: CA2017997767/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145221_44145223del , CM000669.2:g.44145221_44145223del	GRCh38
NC_000007.13:g.44184820_44184822del , CM000669.1:g.44184820_44184822del	GRCh37
NC_000007.12:g.44151345_44151347del	NCBI36
NG_008847.1:g.49202_49204del
NG_008847.2:g.57949_57951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1310_*1312del	ENSP00000379142.4:n.*1310_*1312del
ENST00000616242.5:c.*432_*434del	ENSP00000482149.2:n.*432_*434del
ENST00000683378.1:n.538_540del
ENST00000336642.9:c.346_348del	ENSP00000338009.5:p.Phe116del
ENST00000345378.7:c.1315_1317del	ENSP00000223366.2:p.Phe439del
ENST00000403799.8:c.1312_1314del MANE Select	ENSP00000384247.3:p.Phe438del
ENST00000671824.1:c.1375_1377del	ENSP00000500264.1:p.Phe459del
ENST00000672743.1:n.324_326del
ENST00000673284.1:c.1312_1314del	ENSP00000499852.1:p.Phe438del
ENST00000336642.8:c.364_366del	ENSP00000338009.4:p.Phe122del
ENST00000345378.6:c.1315_1317del	ENSP00000223366.2:p.Phe439del
ENST00000395796.7:c.1309_1311del	ENSP00000379142.3:p.Phe437del
ENST00000403799.7:c.1312_1314del	ENSP00000384247.3:p.Phe438del
ENST00000437084.1:c.1261_1263del	ENSP00000402840.1:p.Phe421del
ENST00000459642.1:n.692_694del
ENST00000616242.4:c.1309_1311del	ENSP00000482149.1:p.Phe437del
NM_000162.3:c.1312_1314del	NP_000153.1:p.Phe438del
NM_033507.1:c.1315_1317del	NP_277042.1:p.Phe439del
NM_033508.1:c.1309_1311del	NP_277043.1:p.Phe437del
NM_000162.4:c.1312_1314del	NP_000153.1:p.Phe438del
NM_001354800.1:c.1312_1314del	NP_001341729.1:p.Phe438del
NM_001354801.1:c.301_303del	NP_001341730.1:p.Phe101del
NM_001354802.1:c.172_174del	NP_001341731.1:p.Phe58del
NM_001354803.1:c.346_348del	NP_001341732.1:p.Phe116del
NM_033507.2:c.1315_1317del	NP_277042.1:p.Phe439del
NM_033508.2:c.1309_1311del	NP_277043.1:p.Phe437del
XM_024446707.1:c.172_174del	XP_024302475.1:p.Phe58del
NM_000162.5:c.1312_1314del MANE Select	NP_000153.1:p.Phe438del
NM_033507.3:c.1315_1317del	NP_277042.1:p.Phe439del
NM_033508.3:c.1309_1311del	NP_277043.1:p.Phe437del
NM_001354803.2:c.346_348del	NP_001341732.1:p.Phe116del