Canonical Allele Identifier: CA2017997770

Gene: GCK

Linked Data

• ClinVar Variation Id: 2574161
• ClinVar RCV Id: RCV003318526
• ERepo: CA2017997770/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145205dup , CM000669.2:g.44145205dup	GRCh38
NC_000007.13:g.44184804dup , CM000669.1:g.44184804dup	GRCh37
NC_000007.12:g.44151329dup	NCBI36
NG_008847.1:g.49221dup
NG_008847.2:g.57968dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1329dup	ENSP00000379142.4:n.*1329dup
ENST00000616242.5:c.*451dup	ENSP00000482149.2:n.*451dup
ENST00000683378.1:n.557dup
ENST00000336642.9:c.365dup	ENSP00000338009.5:p.Ser123GlnfsTer14
ENST00000345378.7:c.1334dup	ENSP00000223366.2:p.Ser446GlnfsTer14
ENST00000403799.8:c.1331dup MANE Select	ENSP00000384247.3:p.Ser445GlnfsTer14
ENST00000671824.1:c.1394dup	ENSP00000500264.1:p.Ser466GlnfsTer14
ENST00000672743.1:n.343dup
ENST00000673284.1:c.1331dup	ENSP00000499852.1:p.Ser445GlnfsTer27
ENST00000336642.8:c.383dup	ENSP00000338009.4:p.Ser129GlnfsTer14
ENST00000345378.6:c.1334dup	ENSP00000223366.2:p.Ser446GlnfsTer14
ENST00000395796.7:c.1328dup	ENSP00000379142.3:p.Ser444GlnfsTer14
ENST00000403799.7:c.1331dup	ENSP00000384247.3:p.Ser445GlnfsTer14
ENST00000437084.1:c.1280dup	ENSP00000402840.1:p.Ser428GlnfsTer14
ENST00000459642.1:n.711dup
ENST00000616242.4:c.1328dup	ENSP00000482149.1:p.Ser444GlnfsTer14
NM_000162.3:c.1331dup	NP_000153.1:p.Ser445GlnfsTer14
NM_033507.1:c.1334dup	NP_277042.1:p.Ser446GlnfsTer14
NM_033508.1:c.1328dup	NP_277043.1:p.Ser444GlnfsTer14
NM_000162.4:c.1331dup	NP_000153.1:p.Ser445GlnfsTer14
NM_001354800.1:c.1331dup	NP_001341729.1:p.Ser445GlnfsTer27
NM_001354801.1:c.320dup	NP_001341730.1:p.Ser108GlnfsTer14
NM_001354802.1:c.191dup	NP_001341731.1:p.Ser65GlnfsTer27
NM_001354803.1:c.365dup	NP_001341732.1:p.Ser123GlnfsTer14
NM_033507.2:c.1334dup	NP_277042.1:p.Ser446GlnfsTer14
NM_033508.2:c.1328dup	NP_277043.1:p.Ser444GlnfsTer14
XM_024446707.1:c.191dup	XP_024302475.1:p.Ser65GlnfsTer14
NM_000162.5:c.1331dup MANE Select	NP_000153.1:p.Ser445GlnfsTer14
NM_033507.3:c.1334dup	NP_277042.1:p.Ser446GlnfsTer14
NM_033508.3:c.1328dup	NP_277043.1:p.Ser444GlnfsTer14
NM_001354803.2:c.365dup	NP_001341732.1:p.Ser123GlnfsTer14