Canonical Allele Identifier: CA279733

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 218080
• ClinVar RCV Id: RCV000202094 ; RCV000213447 ; RCV000629753 ; RCV000825624 ; RCV003454535
• dbSNP Id: rs863225421
• MyVariant Identifiers: chr2:g.48026022dupG (hg19) ; chr2:g.47798883dupG (hg38)
• PubMed: PMID:20587412

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798883dup , CM000664.2:g.47798883dup	GRCh38
NC_000002.11:g.48026022dup , CM000664.1:g.48026022dup	GRCh37
NC_000002.10:g.47879526dup	NCBI36
NG_007111.1:g.20737dup , LRG_219:g.20737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.603dup (MSH6)	ENSP00000406248.2:p.Lys202GlufsTer11
ENST00000420813.6:c.603dup (MSH6)	ENSP00000390382.2:p.Lys202GlufsTer11
ENST00000455383.6:c.603dup (MSH6)	ENSP00000397484.2:p.Lys202GlufsTer11
ENST00000700004.2:c.900dup (MSH6)	ENSP00000514752.2:p.Lys301GlufsTer11
ENST00000699999.1:n.984dup (MSH6)
ENST00000700000.1:c.900dup (MSH6)	ENSP00000514749.1:p.Lys301GlufsTer11
ENST00000700002.1:c.906dup (MSH6)	ENSP00000514750.1:p.Lys303GlufsTer11
ENST00000700003.1:c.627+2820dup (MSH6)	ENSP00000514751.1:n.627+2820dup
ENST00000700004.1:c.57dup (MSH6)	ENSP00000514752.1:p.Lys20GlufsTer11
ENST00000234420.11:c.900dup (MSH6) MANE Select	ENSP00000234420.5:p.Lys301GlufsTer11
ENST00000540021.6:c.510dup (MSH6)	ENSP00000446475.1:p.Lys171GlufsTer11
ENST00000652107.1:c.603dup (MSH6)	ENSP00000498629.1:p.Lys202GlufsTer11
ENST00000673637.1:c.603dup (MSH6)	ENSP00000501310.1:p.Lys202GlufsTer11
ENST00000234420.9:c.900dup (MSH6)	ENSP00000234420.4:p.Lys301GlufsTer11
ENST00000405808.5:c.169+9313dup (FBXO11)	ENSP00000385127.1:n.169+9313dup
ENST00000434234.5:c.*124+9112dup (FBXO11)	ENSP00000402692.1:n.*124+9112dup
ENST00000445503.5:c.*247dup (MSH6)	ENSP00000405294.1:n.*247dup
ENST00000456246.1:c.*388dup (MSH6)	ENSP00000410570.1:n.*388dup
ENST00000538136.1:c.-7dup (MSH6)	ENSP00000438580.1:n.-7dup
ENST00000540021.5:c.510dup (MSH6)	ENSP00000446475.1:p.Lys171GlufsTer11
ENST00000614496.4:c.-7dup (MSH6)	ENSP00000477844.1:n.-7dup
ENST00000616033.4:c.897dup (MSH6)	ENSP00000480261.1:p.Lys300GlufsTer11
ENST00000622629.4:c.-2197dup (MSH6)	ENSP00000482078.1:n.-2197dup
NM_000179.2:c.900dup , LRG_219t1:c.900dup (MSH6)	NP_000170.1:p.Lys301GlufsTer11
NM_001281492.1:c.510dup (MSH6)	NP_001268421.1:p.Lys171GlufsTer11
NM_001281493.1:c.-7dup (MSH6)	NP_001268422.1:n.-7dup
NM_001281494.1:c.-7dup (MSH6)	NP_001268423.1:n.-7dup
XM_005264271.1:c.603dup (MSH6)	XP_005264328.1:p.Lys202GlufsTer11
XM_011532798.1:c.717dup (MSH6)	XP_011531100.1:p.Lys240GlufsTer11
XM_011532799.1:c.603dup (MSH6)	XP_011531101.1:p.Lys202GlufsTer11
XM_011532800.1:c.603dup (MSH6)	XP_011531102.1:p.Lys202GlufsTer11
XM_024452819.1:c.900dup (MSH6)	XP_024308587.1:p.Lys301GlufsTer11
XM_024452820.1:c.717dup (MSH6)	XP_024308588.1:p.Lys240GlufsTer11
XM_024452821.1:c.603dup (MSH6)	XP_024308589.1:p.Lys202GlufsTer11
XM_024452822.1:c.-7dup (MSH6)	XP_024308590.1:n.-7dup
NM_000179.3:c.900dup (MSH6) MANE Select	NP_000170.1:p.Lys301GlufsTer11
NM_001281492.2:c.510dup (MSH6)	NP_001268421.1:p.Lys171GlufsTer11
NM_001281493.2:c.-7dup (MSH6)	NP_001268422.1:n.-7dup
NM_001281494.2:c.-7dup (MSH6)	NP_001268423.1:n.-7dup