Canonical Allele Identifier: CA2573102980

Gene: GCK

Linked Data

• ClinVar Variation Id: 2578360
• ClinVar RCV Id: RCV003326086
• ERepo: CA2573102980/MONDO:0015967/086

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145172dup , CM000669.2:g.44145172dup	GRCh38
NC_000007.13:g.44184771dup , CM000669.1:g.44184771dup	GRCh37
NC_000007.12:g.44151296dup	NCBI36
NG_008847.1:g.49253dup
NG_008847.2:g.58000dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000395796.8:c.*1361dup	ENSP00000379142.4:n.*1361dup
ENST00000616242.5:c.*483dup	ENSP00000482149.2:n.*483dup
ENST00000683378.1:n.589dup
ENST00000336642.9:c.397dup	ENSP00000338009.5:p.Val133GlyfsTer4
ENST00000345378.7:c.1366dup	ENSP00000223366.2:p.Val456GlyfsTer4
ENST00000403799.8:c.1363dup MANE Select	ENSP00000384247.3:p.Val455GlyfsTer4
ENST00000671824.1:c.1426dup	ENSP00000500264.1:p.Val476GlyfsTer4
ENST00000672743.1:n.375dup
ENST00000673284.1:c.1363dup	ENSP00000499852.1:p.Val455GlyfsTer17
ENST00000336642.8:c.415dup	ENSP00000338009.4:p.Val139GlyfsTer4
ENST00000345378.6:c.1366dup	ENSP00000223366.2:p.Val456GlyfsTer4
ENST00000395796.7:c.1360dup	ENSP00000379142.3:p.Val454GlyfsTer4
ENST00000403799.7:c.1363dup	ENSP00000384247.3:p.Val455GlyfsTer4
ENST00000437084.1:c.1312dup	ENSP00000402840.1:p.Val438GlyfsTer4
ENST00000459642.1:n.743dup
ENST00000616242.4:c.1360dup	ENSP00000482149.1:p.Val454GlyfsTer4
NM_000162.3:c.1363dup	NP_000153.1:p.Val455GlyfsTer4
NM_033507.1:c.1366dup	NP_277042.1:p.Val456GlyfsTer4
NM_033508.1:c.1360dup	NP_277043.1:p.Val454GlyfsTer4
NM_000162.4:c.1363dup	NP_000153.1:p.Val455GlyfsTer4
NM_001354800.1:c.1363dup	NP_001341729.1:p.Val455GlyfsTer17
NM_001354801.1:c.352dup	NP_001341730.1:p.Val118GlyfsTer4
NM_001354802.1:c.223dup	NP_001341731.1:p.Val75GlyfsTer17
NM_001354803.1:c.397dup	NP_001341732.1:p.Val133GlyfsTer4
NM_033507.2:c.1366dup	NP_277042.1:p.Val456GlyfsTer4
NM_033508.2:c.1360dup	NP_277043.1:p.Val454GlyfsTer4
XM_024446707.1:c.223dup	XP_024302475.1:p.Val75GlyfsTer4
NM_000162.5:c.1363dup MANE Select	NP_000153.1:p.Val455GlyfsTer4
NM_033507.3:c.1366dup	NP_277042.1:p.Val456GlyfsTer4
NM_033508.3:c.1360dup	NP_277043.1:p.Val454GlyfsTer4
NM_001354803.2:c.397dup	NP_001341732.1:p.Val133GlyfsTer4