Canonical Allele Identifier: CA2580067158

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1731877
• ClinVar RCV Id: RCV002457397 ; RCV003454114

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804957dup , CM000664.2:g.47804957dup	GRCh38
NC_000002.11:g.48032096dup , CM000664.1:g.48032096dup	GRCh37
NC_000002.10:g.47885600dup	NCBI36
NG_007111.1:g.26811dup , LRG_219:g.26811dup
NG_008397.1:g.105719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3189dup (MSH6)	ENSP00000406248.2:p.Glu1064Ter
ENST00000420813.6:c.3189dup (MSH6)	ENSP00000390382.2:p.Glu1064Ter
ENST00000455383.6:c.3189dup (MSH6)	ENSP00000397484.2:p.Glu1064Ter
ENST00000700004.2:c.3173-661dup (MSH6)	ENSP00000514752.2:n.3173-661dup
ENST00000699999.1:n.3570dup (MSH6)
ENST00000700000.1:c.1920dup (MSH6)	ENSP00000514749.1:p.Glu641Ter
ENST00000700002.1:c.3492dup (MSH6)	ENSP00000514750.1:p.Glu1165Ter
ENST00000700003.1:c.941dup (MSH6)	ENSP00000514751.1:n.941dup
ENST00000700004.1:c.2330-661dup (MSH6)	ENSP00000514752.1:n.2330-661dup
ENST00000700005.1:n.2337dup (MSH6)
ENST00000700006.1:n.3558dup (MSH6)
ENST00000700007.1:n.1491dup (MSH6)
ENST00000700008.1:n.1065dup (MSH6)
ENST00000700009.1:n.1064dup (MSH6)
ENST00000700010.1:n.895dup (MSH6)
ENST00000700011.1:n.2190dup (MSH6)
ENST00000234420.11:c.3486dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1163Ter
ENST00000540021.6:c.3096dup (MSH6)	ENSP00000446475.1:p.Glu1033Ter
ENST00000652107.1:c.3189dup (MSH6)	ENSP00000498629.1:p.Glu1064Ter
ENST00000673637.1:c.3189dup (MSH6)	ENSP00000501310.1:p.Glu1064Ter
ENST00000234420.9:c.3486dup (MSH6)	ENSP00000234420.4:p.Glu1163Ter
ENST00000405808.5:c.169+3238dup (FBXO11)	ENSP00000385127.1:n.169+3238dup
ENST00000434234.5:c.*124+3037dup (FBXO11)	ENSP00000402692.1:n.*124+3037dup
ENST00000445503.5:c.*2833dup (MSH6)	ENSP00000405294.1:n.*2833dup
ENST00000538136.1:c.2580dup (MSH6)	ENSP00000438580.1:p.Glu861Ter
ENST00000540021.5:c.3096dup (MSH6)	ENSP00000446475.1:p.Glu1033Ter
ENST00000614496.4:c.2580dup (MSH6)	ENSP00000477844.1:p.Glu861Ter
ENST00000622629.4:c.390dup (MSH6)	ENSP00000482078.1:p.Glu131Ter
NM_000179.2:c.3486dup , LRG_219t1:c.3486dup (MSH6)	NP_000170.1:p.Glu1163Ter
NM_001281492.1:c.3096dup (MSH6)	NP_001268421.1:p.Glu1033Ter
NM_001281493.1:c.2580dup (MSH6)	NP_001268422.1:p.Glu861Ter
NM_001281494.1:c.2580dup (MSH6)	NP_001268423.1:p.Glu861Ter
XM_005264271.1:c.3189dup (MSH6)	XP_005264328.1:p.Glu1064Ter
XM_011532798.1:c.3303dup (MSH6)	XP_011531100.1:p.Glu1102Ter
XM_011532799.1:c.3189dup (MSH6)	XP_011531101.1:p.Glu1064Ter
XM_011532800.1:c.3189dup (MSH6)	XP_011531102.1:p.Glu1064Ter
XM_024452819.1:c.3486dup (MSH6)	XP_024308587.1:p.Glu1163Ter
XM_024452820.1:c.3303dup (MSH6)	XP_024308588.1:p.Glu1102Ter
XM_024452821.1:c.3189dup (MSH6)	XP_024308589.1:p.Glu1064Ter
XM_024452822.1:c.2580dup (MSH6)	XP_024308590.1:p.Glu861Ter
NM_000179.3:c.3486dup (MSH6) MANE Select	NP_000170.1:p.Glu1163Ter
NM_001281492.2:c.3096dup (MSH6)	NP_001268421.1:p.Glu1033Ter
NM_001281493.2:c.2580dup (MSH6)	NP_001268422.1:p.Glu861Ter
NM_001281494.2:c.2580dup (MSH6)	NP_001268423.1:p.Glu861Ter