Canonical Allele Identifier: CA915943969

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824219
• ClinVar RCV Id: RCV001021157
• dbSNP Id: rs1572745322

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806351dup , CM000664.2:g.47806351dup	GRCh38
NC_000002.11:g.48033490dup , CM000664.1:g.48033490dup	GRCh37
NC_000002.10:g.47886994dup	NCBI36
NG_007111.1:g.28205dup , LRG_219:g.28205dup
NG_008397.1:g.104326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3497dup (MSH6)	ENSP00000406248.2:p.His1167ThrfsTer9
ENST00000420813.6:c.3497dup (MSH6)	ENSP00000390382.2:p.His1167ThrfsTer9
ENST00000455383.6:c.3497dup (MSH6)	ENSP00000397484.2:p.His1167ThrfsTer9
ENST00000700004.2:c.3410dup (MSH6)	ENSP00000514752.2:p.His1138ThrfsTer9
ENST00000699999.1:n.4468dup (MSH6)
ENST00000700000.1:c.2228dup (MSH6)	ENSP00000514749.1:p.His744ThrfsTer9
ENST00000700002.1:c.3800dup (MSH6)	ENSP00000514750.1:p.His1268ThrfsTer9
ENST00000700003.1:c.1249dup (MSH6)	ENSP00000514751.1:n.1249dup
ENST00000700004.1:c.2567dup (MSH6)	ENSP00000514752.1:p.His857ThrfsTer9
ENST00000700005.1:n.2645dup (MSH6)
ENST00000700006.1:n.4952dup (MSH6)
ENST00000700007.1:n.2389dup (MSH6)
ENST00000700008.1:n.1963dup (MSH6)
ENST00000700009.1:n.2458dup (MSH6)
ENST00000700010.1:n.1203dup (MSH6)
ENST00000700011.1:n.3088dup (MSH6)
ENST00000682451.1:n.4398dup (FBXO11)
ENST00000684712.1:n.4660dup (FBXO11)
ENST00000234420.11:c.3794dup (MSH6) MANE Select	ENSP00000234420.5:p.His1266ThrfsTer9
ENST00000540021.6:c.3404dup (MSH6)	ENSP00000446475.1:p.His1136ThrfsTer9
ENST00000652107.1:c.3497dup (MSH6)	ENSP00000498629.1:p.His1167ThrfsTer9
ENST00000673637.1:c.3497dup (MSH6)	ENSP00000501310.1:p.His1167ThrfsTer9
ENST00000234420.9:c.3794dup (MSH6)	ENSP00000234420.4:p.His1266ThrfsTer9
ENST00000405808.5:c.169+1845dup (FBXO11)	ENSP00000385127.1:n.169+1845dup
ENST00000434234.5:c.*124+1644dup (FBXO11)	ENSP00000402692.1:n.*124+1644dup
ENST00000445503.5:c.*3141dup (MSH6)	ENSP00000405294.1:n.*3141dup
ENST00000538136.1:c.2888dup (MSH6)	ENSP00000438580.1:p.His964ThrfsTer9
ENST00000540021.5:c.3404dup (MSH6)	ENSP00000446475.1:p.His1136ThrfsTer9
ENST00000614496.4:c.2888dup (MSH6)	ENSP00000477844.1:p.His964ThrfsTer9
ENST00000622629.4:c.695dup (MSH6)	ENSP00000482078.1:p.His233ThrfsTer9
NM_000179.2:c.3794dup , LRG_219t1:c.3794dup (MSH6)	NP_000170.1:p.His1266ThrfsTer9
NM_001281492.1:c.3404dup (MSH6)	NP_001268421.1:p.His1136ThrfsTer9
NM_001281493.1:c.2888dup (MSH6)	NP_001268422.1:p.His964ThrfsTer9
NM_001281494.1:c.2888dup (MSH6)	NP_001268423.1:p.His964ThrfsTer9
XM_005264271.1:c.3497dup (MSH6)	XP_005264328.1:p.His1167ThrfsTer9
XM_011532798.1:c.3611dup (MSH6)	XP_011531100.1:p.His1205ThrfsTer9
XM_011532799.1:c.3497dup (MSH6)	XP_011531101.1:p.His1167ThrfsTer9
XM_011532800.1:c.3497dup (MSH6)	XP_011531102.1:p.His1167ThrfsTer9
XM_024452819.1:c.3794dup (MSH6)	XP_024308587.1:p.His1266ThrfsTer16
XM_024452820.1:c.3611dup (MSH6)	XP_024308588.1:p.His1205ThrfsTer16
XM_024452821.1:c.3497dup (MSH6)	XP_024308589.1:p.His1167ThrfsTer16
XM_024452822.1:c.2888dup (MSH6)	XP_024308590.1:p.His964ThrfsTer16
NM_000179.3:c.3794dup (MSH6) MANE Select	NP_000170.1:p.His1266ThrfsTer9
NM_001281492.2:c.3404dup (MSH6)	NP_001268421.1:p.His1136ThrfsTer9
NM_001281493.2:c.2888dup (MSH6)	NP_001268422.1:p.His964ThrfsTer9
NM_001281494.2:c.2888dup (MSH6)	NP_001268423.1:p.His964ThrfsTer9