Canonical Allele Identifier: CA645372837

Gene: GCK

Linked Data

• ClinVar Variation Id: 435297
• ClinVar RCV Id: RCV000502957 ; RCV002287417
• dbSNP Id: rs1554334433
• MyVariant Identifiers: chr7:g.44184770_44184772dup (hg19) ; chr7:g.44145171_44145173dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145174_44145176dup , CM000669.2:g.44145174_44145176dup	GRCh38
NC_000007.13:g.44184773_44184775dup , CM000669.1:g.44184773_44184775dup	GRCh37
NC_000007.12:g.44151298_44151300dup	NCBI36
NG_008847.1:g.49251_49253dup
NG_008847.2:g.57998_58000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.*1359_*1361dup	ENSP00000379142.4:n.*1359_*1361dup
ENST00000616242.5:c.*481_*483dup	ENSP00000482149.2:n.*481_*483dup
ENST00000683378.1:n.587_589dup
ENST00000336642.9:c.395_397dup	ENSP00000338009.5:p.Ala132_Val133insAla
ENST00000345378.7:c.1364_1366dup	ENSP00000223366.2:p.Ala455_Val456insAla
ENST00000403799.8:c.1361_1363dup MANE Select	ENSP00000384247.3:p.Ala454_Val455insAla
ENST00000671824.1:c.1424_1426dup	ENSP00000500264.1:p.Ala475_Val476insAla
ENST00000672743.1:n.373_375dup
ENST00000673284.1:c.1361_1363dup	ENSP00000499852.1:p.Ala454_Val455insAla
ENST00000336642.8:c.413_415dup	ENSP00000338009.4:p.Ala138_Val139insAla
ENST00000345378.6:c.1364_1366dup	ENSP00000223366.2:p.Ala455_Val456insAla
ENST00000395796.7:c.1358_1360dup	ENSP00000379142.3:p.Ala453_Val454insAla
ENST00000403799.7:c.1361_1363dup	ENSP00000384247.3:p.Ala454_Val455insAla
ENST00000437084.1:c.1310_1312dup	ENSP00000402840.1:p.Ala437_Val438insAla
ENST00000459642.1:n.741_743dup
ENST00000616242.4:c.1358_1360dup	ENSP00000482149.1:p.Ala453_Val454insAla
NM_000162.3:c.1361_1363dup	NP_000153.1:p.Ala454_Val455insAla
NM_033507.1:c.1364_1366dup	NP_277042.1:p.Ala455_Val456insAla
NM_033508.1:c.1358_1360dup	NP_277043.1:p.Ala453_Val454insAla
NM_000162.4:c.1361_1363dup	NP_000153.1:p.Ala454_Val455insAla
NM_001354800.1:c.1361_1363dup	NP_001341729.1:p.Ala454_Val455insAla
NM_001354801.1:c.350_352dup	NP_001341730.1:p.Ala117_Val118insAla
NM_001354802.1:c.221_223dup	NP_001341731.1:p.Ala74_Val75insAla
NM_001354803.1:c.395_397dup	NP_001341732.1:p.Ala132_Val133insAla
NM_033507.2:c.1364_1366dup	NP_277042.1:p.Ala455_Val456insAla
NM_033508.2:c.1358_1360dup	NP_277043.1:p.Ala453_Val454insAla
XM_024446707.1:c.221_223dup	XP_024302475.1:p.Ala74_Val75insAla
NM_000162.5:c.1361_1363dup MANE Select	NP_000153.1:p.Ala454_Val455insAla
NM_033507.3:c.1364_1366dup	NP_277042.1:p.Ala455_Val456insAla
NM_033508.3:c.1358_1360dup	NP_277043.1:p.Ala453_Val454insAla
NM_001354803.2:c.395_397dup	NP_001341732.1:p.Ala132_Val133insAla