Canonical Allele Identifier: CA2697548070

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2773663
• ClinVar RCV Id: RCV003585636

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806206_47806207insCTGCAACATTT , CM000664.2:g.47806206_47806207insCTGCAACATTT	GRCh38
NC_000002.11:g.48033345_48033346insCTGCAACATTT , CM000664.1:g.48033345_48033346insCTGCAACATTT	GRCh37
NC_000002.10:g.47886849_47886850insCTGCAACATTT	NCBI36
NG_007111.1:g.28060_28061insCTGCAACATTT , LRG_219:g.28060_28061insCTGCAACATTT
NG_008397.1:g.104469_104470insAAATGTTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3352_3353insCTGCAACATTT (MSH6)	ENSP00000406248.2:p.Arg1118ThrfsTer15
ENST00000420813.6:c.3352_3353insCTGCAACATTT (MSH6)	ENSP00000390382.2:p.Arg1118ThrfsTer15
ENST00000455383.6:c.3352_3353insCTGCAACATTT (MSH6)	ENSP00000397484.2:p.Arg1118ThrfsTer15
ENST00000700004.2:c.3265_3266insCTGCAACATTT (MSH6)	ENSP00000514752.2:p.Arg1089ThrfsTer15
ENST00000699999.1:n.4323_4324insCTGCAACATTT (MSH6)
ENST00000700000.1:c.2083_2084insCTGCAACATTT (MSH6)	ENSP00000514749.1:p.Arg695ThrfsTer15
ENST00000700002.1:c.3655_3656insCTGCAACATTT (MSH6)	ENSP00000514750.1:p.Arg1219ThrfsTer15
ENST00000700003.1:c.1104_1105insCTGCAACATTT (MSH6)	ENSP00000514751.1:n.1104_1105insCTGCAACATTT
ENST00000700004.1:c.2422_2423insCTGCAACATTT (MSH6)	ENSP00000514752.1:p.Arg808ThrfsTer15
ENST00000700005.1:n.2500_2501insCTGCAACATTT (MSH6)
ENST00000700006.1:n.4807_4808insCTGCAACATTT (MSH6)
ENST00000700007.1:n.2244_2245insCTGCAACATTT (MSH6)
ENST00000700008.1:n.1818_1819insCTGCAACATTT (MSH6)
ENST00000700009.1:n.2313_2314insCTGCAACATTT (MSH6)
ENST00000700010.1:n.1058_1059insCTGCAACATTT (MSH6)
ENST00000700011.1:n.2943_2944insCTGCAACATTT (MSH6)
ENST00000682451.1:n.4541_4542insAAATGTTGCAG (FBXO11)
ENST00000684712.1:n.4803_4804insAAATGTTGCAG (FBXO11)
ENST00000234420.11:c.3649_3650insCTGCAACATTT (MSH6) MANE Select	ENSP00000234420.5:p.Arg1217ThrfsTer15
ENST00000540021.6:c.3259_3260insCTGCAACATTT (MSH6)	ENSP00000446475.1:p.Arg1087ThrfsTer15
ENST00000652107.1:c.3352_3353insCTGCAACATTT (MSH6)	ENSP00000498629.1:p.Arg1118ThrfsTer15
ENST00000673637.1:c.3352_3353insCTGCAACATTT (MSH6)	ENSP00000501310.1:p.Arg1118ThrfsTer15
ENST00000234420.9:c.3649_3650insCTGCAACATTT (MSH6)	ENSP00000234420.4:p.Arg1217ThrfsTer15
ENST00000405808.5:c.169+1988_169+1989insAAATGTTGCAG (FBXO11)	ENSP00000385127.1:n.169+1988_169+1989insAAATGTTGCAG
ENST00000434234.5:c.*124+1787_*124+1788insAAATGTTGCAG (FBXO11)	ENSP00000402692.1:n.*124+1787_*124+1788insAAATGTTGCAG
ENST00000445503.5:c.*2996_*2997insCTGCAACATTT (MSH6)	ENSP00000405294.1:n.*2996_*2997insCTGCAACATTT
ENST00000538136.1:c.2743_2744insCTGCAACATTT (MSH6)	ENSP00000438580.1:p.Arg915ThrfsTer15
ENST00000540021.5:c.3259_3260insCTGCAACATTT (MSH6)	ENSP00000446475.1:p.Arg1087ThrfsTer15
ENST00000614496.4:c.2743_2744insCTGCAACATTT (MSH6)	ENSP00000477844.1:p.Arg915ThrfsTer15
ENST00000622629.4:c.553_554insCTGCAACATTT (MSH6)	ENSP00000482078.1:p.Arg185ThrfsTer15
NM_000179.2:c.3649_3650insCTGCAACATTT , LRG_219t1:c.3649_3650insCTGCAACATTT (MSH6)	NP_000170.1:p.Arg1217ThrfsTer15
NM_001281492.1:c.3259_3260insCTGCAACATTT (MSH6)	NP_001268421.1:p.Arg1087ThrfsTer15
NM_001281493.1:c.2743_2744insCTGCAACATTT (MSH6)	NP_001268422.1:p.Arg915ThrfsTer15
NM_001281494.1:c.2743_2744insCTGCAACATTT (MSH6)	NP_001268423.1:p.Arg915ThrfsTer15
XM_005264271.1:c.3352_3353insCTGCAACATTT (MSH6)	XP_005264328.1:p.Arg1118ThrfsTer15
XM_011532798.1:c.3466_3467insCTGCAACATTT (MSH6)	XP_011531100.1:p.Arg1156ThrfsTer15
XM_011532799.1:c.3352_3353insCTGCAACATTT (MSH6)	XP_011531101.1:p.Arg1118ThrfsTer15
XM_011532800.1:c.3352_3353insCTGCAACATTT (MSH6)	XP_011531102.1:p.Arg1118ThrfsTer15
XM_024452819.1:c.3649_3650insCTGCAACATTT (MSH6)	XP_024308587.1:p.Arg1217ThrfsTer15
XM_024452820.1:c.3466_3467insCTGCAACATTT (MSH6)	XP_024308588.1:p.Arg1156ThrfsTer15
XM_024452821.1:c.3352_3353insCTGCAACATTT (MSH6)	XP_024308589.1:p.Arg1118ThrfsTer15
XM_024452822.1:c.2743_2744insCTGCAACATTT (MSH6)	XP_024308590.1:p.Arg915ThrfsTer15
NM_000179.3:c.3649_3650insCTGCAACATTT (MSH6) MANE Select	NP_000170.1:p.Arg1217ThrfsTer15
NM_001281492.2:c.3259_3260insCTGCAACATTT (MSH6)	NP_001268421.1:p.Arg1087ThrfsTer15
NM_001281493.2:c.2743_2744insCTGCAACATTT (MSH6)	NP_001268422.1:p.Arg915ThrfsTer15
NM_001281494.2:c.2743_2744insCTGCAACATTT (MSH6)	NP_001268423.1:p.Arg915ThrfsTer15