Canonical Allele Identifier: CA2573134757

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1442977
• ClinVar RCV Id: RCV001953252
• dbSNP Id: rs2104536807

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806210dup , CM000664.2:g.47806210dup	GRCh38
NC_000002.11:g.48033349dup , CM000664.1:g.48033349dup	GRCh37
NC_000002.10:g.47886853dup	NCBI36
NG_007111.1:g.28064dup , LRG_219:g.28064dup
NG_008397.1:g.104467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3356dup (MSH6)	ENSP00000406248.2:p.Thr1120TyrfsTer5
ENST00000420813.6:c.3356dup (MSH6)	ENSP00000390382.2:p.Thr1120TyrfsTer5
ENST00000455383.6:c.3356dup (MSH6)	ENSP00000397484.2:p.Thr1120TyrfsTer5
ENST00000700004.2:c.3269dup (MSH6)	ENSP00000514752.2:p.Thr1091TyrfsTer5
ENST00000699999.1:n.4327dup (MSH6)
ENST00000700000.1:c.2087dup (MSH6)	ENSP00000514749.1:p.Thr697TyrfsTer5
ENST00000700002.1:c.3659dup (MSH6)	ENSP00000514750.1:p.Thr1221TyrfsTer5
ENST00000700003.1:c.1108dup (MSH6)	ENSP00000514751.1:n.1108dup
ENST00000700004.1:c.2426dup (MSH6)	ENSP00000514752.1:p.Thr810TyrfsTer5
ENST00000700005.1:n.2504dup (MSH6)
ENST00000700006.1:n.4811dup (MSH6)
ENST00000700007.1:n.2248dup (MSH6)
ENST00000700008.1:n.1822dup (MSH6)
ENST00000700009.1:n.2317dup (MSH6)
ENST00000700010.1:n.1062dup (MSH6)
ENST00000700011.1:n.2947dup (MSH6)
ENST00000682451.1:n.4539dup (FBXO11)
ENST00000684712.1:n.4801dup (FBXO11)
ENST00000234420.11:c.3653dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1219TyrfsTer5
ENST00000540021.6:c.3263dup (MSH6)	ENSP00000446475.1:p.Thr1089TyrfsTer5
ENST00000652107.1:c.3356dup (MSH6)	ENSP00000498629.1:p.Thr1120TyrfsTer5
ENST00000673637.1:c.3356dup (MSH6)	ENSP00000501310.1:p.Thr1120TyrfsTer5
ENST00000234420.9:c.3653dup (MSH6)	ENSP00000234420.4:p.Thr1219TyrfsTer5
ENST00000405808.5:c.169+1986dup (FBXO11)	ENSP00000385127.1:n.169+1986dup
ENST00000434234.5:c.*124+1785dup (FBXO11)	ENSP00000402692.1:n.*124+1785dup
ENST00000445503.5:c.*3000dup (MSH6)	ENSP00000405294.1:n.*3000dup
ENST00000538136.1:c.2747dup (MSH6)	ENSP00000438580.1:p.Thr917TyrfsTer5
ENST00000540021.5:c.3263dup (MSH6)	ENSP00000446475.1:p.Thr1089TyrfsTer5
ENST00000614496.4:c.2747dup (MSH6)	ENSP00000477844.1:p.Thr917TyrfsTer5
ENST00000622629.4:c.557dup (MSH6)	ENSP00000482078.1:p.Thr187TyrfsTer5
NM_000179.2:c.3653dup , LRG_219t1:c.3653dup (MSH6)	NP_000170.1:p.Thr1219TyrfsTer5
NM_001281492.1:c.3263dup (MSH6)	NP_001268421.1:p.Thr1089TyrfsTer5
NM_001281493.1:c.2747dup (MSH6)	NP_001268422.1:p.Thr917TyrfsTer5
NM_001281494.1:c.2747dup (MSH6)	NP_001268423.1:p.Thr917TyrfsTer5
XM_005264271.1:c.3356dup (MSH6)	XP_005264328.1:p.Thr1120TyrfsTer5
XM_011532798.1:c.3470dup (MSH6)	XP_011531100.1:p.Thr1158TyrfsTer5
XM_011532799.1:c.3356dup (MSH6)	XP_011531101.1:p.Thr1120TyrfsTer5
XM_011532800.1:c.3356dup (MSH6)	XP_011531102.1:p.Thr1120TyrfsTer5
XM_024452819.1:c.3653dup (MSH6)	XP_024308587.1:p.Thr1219TyrfsTer5
XM_024452820.1:c.3470dup (MSH6)	XP_024308588.1:p.Thr1158TyrfsTer5
XM_024452821.1:c.3356dup (MSH6)	XP_024308589.1:p.Thr1120TyrfsTer5
XM_024452822.1:c.2747dup (MSH6)	XP_024308590.1:p.Thr917TyrfsTer5
NM_000179.3:c.3653dup (MSH6) MANE Select	NP_000170.1:p.Thr1219TyrfsTer5
NM_001281492.2:c.3263dup (MSH6)	NP_001268421.1:p.Thr1089TyrfsTer5
NM_001281493.2:c.2747dup (MSH6)	NP_001268422.1:p.Thr917TyrfsTer5
NM_001281494.2:c.2747dup (MSH6)	NP_001268423.1:p.Thr917TyrfsTer5