Canonical Allele Identifier: CA2580067731

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1782763
• ClinVar RCV Id: RCV002410796

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799909_47799920dup , CM000664.2:g.47799909_47799920dup	GRCh38
NC_000002.11:g.48027048_48027059dup , CM000664.1:g.48027048_48027059dup	GRCh37
NC_000002.10:g.47880552_47880563dup	NCBI36
NG_007111.1:g.21763_21774dup , LRG_219:g.21763_21774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1629_1640dup (MSH6)	ENSP00000406248.2:p.Glu546_Lys547insAsnPheArgGlu
ENST00000420813.6:c.1629_1640dup (MSH6)	ENSP00000390382.2:p.Glu546_Lys547insAsnPheArgGlu
ENST00000455383.6:c.1629_1640dup (MSH6)	ENSP00000397484.2:p.Glu546_Lys547insAsnPheArgGlu
ENST00000700004.2:c.1926_1937dup (MSH6)	ENSP00000514752.2:p.Glu645_Lys646insAsnPheArgGlu
ENST00000699999.1:n.2010_2021dup (MSH6)
ENST00000700000.1:c.1606+320_1606+331dup (MSH6)	ENSP00000514749.1:n.1606+320_1606+331dup
ENST00000700002.1:c.1932_1943dup (MSH6)	ENSP00000514750.1:p.Glu647_Lys648insAsnPheArgGlu
ENST00000700003.1:c.628-3511_628-3500dup (MSH6)	ENSP00000514751.1:n.628-3511_628-3500dup
ENST00000700004.1:c.1083_1094dup (MSH6)	ENSP00000514752.1:p.Glu364_Lys365insAsnPheArgGlu
ENST00000234420.11:c.1926_1937dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu645_Lys646insAsnPheArgGlu
ENST00000540021.6:c.1536_1547dup (MSH6)	ENSP00000446475.1:p.Glu515_Lys516insAsnPheArgGlu
ENST00000652107.1:c.1629_1640dup (MSH6)	ENSP00000498629.1:p.Glu546_Lys547insAsnPheArgGlu
ENST00000673637.1:c.1629_1640dup (MSH6)	ENSP00000501310.1:p.Glu546_Lys547insAsnPheArgGlu
ENST00000234420.9:c.1926_1937dup (MSH6)	ENSP00000234420.4:p.Glu645_Lys646insAsnPheArgGlu
ENST00000405808.5:c.169+8276_169+8287dup (FBXO11)	ENSP00000385127.1:n.169+8276_169+8287dup
ENST00000434234.5:c.*124+8075_*124+8086dup (FBXO11)	ENSP00000402692.1:n.*124+8075_*124+8086dup
ENST00000445503.5:c.*1273_*1284dup (MSH6)	ENSP00000405294.1:n.*1273_*1284dup
ENST00000538136.1:c.1020_1031dup (MSH6)	ENSP00000438580.1:p.Glu343_Lys344insAsnPheArgGlu
ENST00000540021.5:c.1536_1547dup (MSH6)	ENSP00000446475.1:p.Glu515_Lys516insAsnPheArgGlu
ENST00000614496.4:c.1020_1031dup (MSH6)	ENSP00000477844.1:p.Glu343_Lys344insAsnPheArgGlu
ENST00000616033.4:c.1923_1934dup (MSH6)	ENSP00000480261.1:p.Glu644_Lys645insAsnPheArgGlu
ENST00000622629.4:c.-1171_-1160dup (MSH6)	ENSP00000482078.1:n.-1171_-1160dup
NM_000179.2:c.1926_1937dup , LRG_219t1:c.1926_1937dup (MSH6)	NP_000170.1:p.Glu645_Lys646insAsnPheArgGlu
NM_001281492.1:c.1536_1547dup (MSH6)	NP_001268421.1:p.Glu515_Lys516insAsnPheArgGlu
NM_001281493.1:c.1020_1031dup (MSH6)	NP_001268422.1:p.Glu343_Lys344insAsnPheArgGlu
NM_001281494.1:c.1020_1031dup (MSH6)	NP_001268423.1:p.Glu343_Lys344insAsnPheArgGlu
XM_005264271.1:c.1629_1640dup (MSH6)	XP_005264328.1:p.Glu546_Lys547insAsnPheArgGlu
XM_011532798.1:c.1743_1754dup (MSH6)	XP_011531100.1:p.Glu584_Lys585insAsnPheArgGlu
XM_011532799.1:c.1629_1640dup (MSH6)	XP_011531101.1:p.Glu546_Lys547insAsnPheArgGlu
XM_011532800.1:c.1629_1640dup (MSH6)	XP_011531102.1:p.Glu546_Lys547insAsnPheArgGlu
XM_024452819.1:c.1926_1937dup (MSH6)	XP_024308587.1:p.Glu645_Lys646insAsnPheArgGlu
XM_024452820.1:c.1743_1754dup (MSH6)	XP_024308588.1:p.Glu584_Lys585insAsnPheArgGlu
XM_024452821.1:c.1629_1640dup (MSH6)	XP_024308589.1:p.Glu546_Lys547insAsnPheArgGlu
XM_024452822.1:c.1020_1031dup (MSH6)	XP_024308590.1:p.Glu343_Lys344insAsnPheArgGlu
NM_000179.3:c.1926_1937dup (MSH6) MANE Select	NP_000170.1:p.Glu645_Lys646insAsnPheArgGlu
NM_001281492.2:c.1536_1547dup (MSH6)	NP_001268421.1:p.Glu515_Lys516insAsnPheArgGlu
NM_001281493.2:c.1020_1031dup (MSH6)	NP_001268422.1:p.Glu343_Lys344insAsnPheArgGlu
NM_001281494.2:c.1020_1031dup (MSH6)	NP_001268423.1:p.Glu343_Lys344insAsnPheArgGlu