Canonical Allele Identifier: CA2573134738

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1452563
• ClinVar RCV Id: RCV001994584 ; RCV003453847
• dbSNP Id: rs2104504315

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804921dup , CM000664.2:g.47804921dup	GRCh38
NC_000002.11:g.48032060dup , CM000664.1:g.48032060dup	GRCh37
NC_000002.10:g.47885564dup	NCBI36
NG_007111.1:g.26775dup , LRG_219:g.26775dup
NG_008397.1:g.105755dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3153dup (MSH6)	ENSP00000406248.2:p.Ala1052SerfsTer13
ENST00000420813.6:c.3153dup (MSH6)	ENSP00000390382.2:p.Ala1052SerfsTer13
ENST00000455383.6:c.3153dup (MSH6)	ENSP00000397484.2:p.Ala1052SerfsTer13
ENST00000700004.2:c.3173-697dup (MSH6)	ENSP00000514752.2:n.3173-697dup
ENST00000699999.1:n.3534dup (MSH6)
ENST00000700000.1:c.1884dup (MSH6)	ENSP00000514749.1:p.Ala629SerfsTer13
ENST00000700002.1:c.3456dup (MSH6)	ENSP00000514750.1:p.Ala1153SerfsTer13
ENST00000700003.1:c.905dup (MSH6)	ENSP00000514751.1:n.905dup
ENST00000700004.1:c.2330-697dup (MSH6)	ENSP00000514752.1:n.2330-697dup
ENST00000700005.1:n.2301dup (MSH6)
ENST00000700006.1:n.3522dup (MSH6)
ENST00000700007.1:n.1455dup (MSH6)
ENST00000700008.1:n.1029dup (MSH6)
ENST00000700009.1:n.1028dup (MSH6)
ENST00000700010.1:n.859dup (MSH6)
ENST00000700011.1:n.2154dup (MSH6)
ENST00000234420.11:c.3450dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1151SerfsTer13
ENST00000540021.6:c.3060dup (MSH6)	ENSP00000446475.1:p.Ala1021SerfsTer13
ENST00000652107.1:c.3153dup (MSH6)	ENSP00000498629.1:p.Ala1052SerfsTer13
ENST00000673637.1:c.3153dup (MSH6)	ENSP00000501310.1:p.Ala1052SerfsTer13
ENST00000234420.9:c.3450dup (MSH6)	ENSP00000234420.4:p.Ala1151SerfsTer13
ENST00000405808.5:c.169+3274dup (FBXO11)	ENSP00000385127.1:n.169+3274dup
ENST00000434234.5:c.*124+3073dup (FBXO11)	ENSP00000402692.1:n.*124+3073dup
ENST00000445503.5:c.*2797dup (MSH6)	ENSP00000405294.1:n.*2797dup
ENST00000538136.1:c.2544dup (MSH6)	ENSP00000438580.1:p.Ala849SerfsTer13
ENST00000540021.5:c.3060dup (MSH6)	ENSP00000446475.1:p.Ala1021SerfsTer13
ENST00000614496.4:c.2544dup (MSH6)	ENSP00000477844.1:p.Ala849SerfsTer13
ENST00000622629.4:c.354dup (MSH6)	ENSP00000482078.1:p.Ala119SerfsTer13
NM_000179.2:c.3450dup , LRG_219t1:c.3450dup (MSH6)	NP_000170.1:p.Ala1151SerfsTer13
NM_001281492.1:c.3060dup (MSH6)	NP_001268421.1:p.Ala1021SerfsTer13
NM_001281493.1:c.2544dup (MSH6)	NP_001268422.1:p.Ala849SerfsTer13
NM_001281494.1:c.2544dup (MSH6)	NP_001268423.1:p.Ala849SerfsTer13
XM_005264271.1:c.3153dup (MSH6)	XP_005264328.1:p.Ala1052SerfsTer13
XM_011532798.1:c.3267dup (MSH6)	XP_011531100.1:p.Ala1090SerfsTer13
XM_011532799.1:c.3153dup (MSH6)	XP_011531101.1:p.Ala1052SerfsTer13
XM_011532800.1:c.3153dup (MSH6)	XP_011531102.1:p.Ala1052SerfsTer13
XM_024452819.1:c.3450dup (MSH6)	XP_024308587.1:p.Ala1151SerfsTer13
XM_024452820.1:c.3267dup (MSH6)	XP_024308588.1:p.Ala1090SerfsTer13
XM_024452821.1:c.3153dup (MSH6)	XP_024308589.1:p.Ala1052SerfsTer13
XM_024452822.1:c.2544dup (MSH6)	XP_024308590.1:p.Ala849SerfsTer13
NM_000179.3:c.3450dup (MSH6) MANE Select	NP_000170.1:p.Ala1151SerfsTer13
NM_001281492.2:c.3060dup (MSH6)	NP_001268421.1:p.Ala1021SerfsTer13
NM_001281493.2:c.2544dup (MSH6)	NP_001268422.1:p.Ala849SerfsTer13
NM_001281494.2:c.2544dup (MSH6)	NP_001268423.1:p.Ala849SerfsTer13