Canonical Allele Identifier: CA2496602227

Gene: GCK

Linked Data

• ClinVar Variation Id: 2571664
• ClinVar RCV Id: RCV003313374
• ERepo: CA2496602227/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145009_44145176delinsA , CM000669.2:g.44145009_44145176delinsA	GRCh38
NC_000007.13:g.44184608_44184775delinsA , CM000669.1:g.44184608_44184775delinsA	GRCh37
NC_000007.12:g.44151133_44151300delinsA	NCBI36
NG_008847.1:g.49248_49415delinsT
NG_008847.2:g.57995_58162delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1356_*1523delinsT	ENSP00000379142.4:n.*1356_*1523delinsT
ENST00000616242.5:c.*478_*645delinsT	ENSP00000482149.2:n.*478_*645delinsT
ENST00000683378.1:n.584_751delinsT
ENST00000336642.9:c.392_*127delinsT	ENSP00000338009.5:n.[c.392_*127delinsT;Ser131LeufsTer25]
ENST00000345378.7:c.1361_*127delinsT	ENSP00000223366.2:n.[c.1361_*127delinsT;Ser454LeufsTer25]
ENST00000403799.8:c.1358_*127delinsT MANE Select	ENSP00000384247.3:n.[c.1358_*127delinsT;Ser453LeufsTer25]
ENST00000671824.1:c.1421_*127delinsT	ENSP00000500264.1:n.[c.1421_*127delinsT;Ser474LeufsTer25]
ENST00000672743.1:n.370_381+156delinsT
ENST00000673284.1:c.1358_1369+156delinsT
ENST00000336642.8:c.410_577delinsT	ENSP00000338009.4:n.[c.410_577delinsT;Ser137LeufsTer25]
ENST00000345378.6:c.1361_*127delinsT	ENSP00000223366.2:n.[c.1361_*127delinsT;Ser454LeufsTer25]
ENST00000395796.7:c.1355_*127delinsT	ENSP00000379142.3:n.[c.1355_*127delinsT;Ser452LeufsTer25]
ENST00000403799.7:c.1358_*127delinsT	ENSP00000384247.3:n.[c.1358_*127delinsT;Ser453LeufsTer25]
ENST00000459642.1:n.738_905delinsT
ENST00000616242.4:c.1355_1522delinsT	ENSP00000482149.1:n.[c.1355_1522delinsT;Ser452LeufsTer25]
NM_000162.3:c.1358_*127delinsT	NP_000153.1:n.[c.1358_*127delinsT;Ser453LeufsTer25]
NM_033507.1:c.1361_*127delinsT	NP_277042.1:n.[c.1361_*127delinsT;Ser454LeufsTer25]
NM_033508.1:c.1355_*127delinsT	NP_277043.1:n.[c.1355_*127delinsT;Ser452LeufsTer25]
NM_000162.4:c.1358_*127delinsT	NP_000153.1:n.[c.1358_*127delinsT;Ser453LeufsTer25]
NM_001354800.1:c.1358_1369+156delinsT
NM_001354801.1:c.347_*127delinsT	NP_001341730.1:n.[c.347_*127delinsT;Ser116LeufsTer25]
NM_001354802.1:c.218_229+156delinsT
NM_001354803.1:c.392_*127delinsT	NP_001341732.1:n.[c.392_*127delinsT;Ser131LeufsTer25]
NM_033507.2:c.1361_*127delinsT	NP_277042.1:n.[c.1361_*127delinsT;Ser454LeufsTer25]
NM_033508.2:c.1355_*127delinsT	NP_277043.1:n.[c.1355_*127delinsT;Ser452LeufsTer25]
XM_024446707.1:c.218_*127delinsT	XP_024302475.1:n.[c.218_*127delinsT;Ser73LeufsTer25]
NM_000162.5:c.1358_*127delinsT MANE Select	NP_000153.1:n.[c.1358_*127delinsT;Ser453LeufsTer25]
NM_033507.3:c.1361_*127delinsT	NP_277042.1:n.[c.1361_*127delinsT;Ser454LeufsTer25]
NM_033508.3:c.1355_*127delinsT	NP_277043.1:n.[c.1355_*127delinsT;Ser452LeufsTer25]
NM_001354803.2:c.392_*127delinsT	NP_001341732.1:n.[c.392_*127delinsT;Ser131LeufsTer25]