Canonical Allele Identifier: CA2580067398

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1735519
• ClinVar RCV Id: RCV003454140 ; RCV002355482 ; RCV003759117

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806500_47806503dup , CM000664.2:g.47806500_47806503dup	GRCh38
NC_000002.11:g.48033639_48033642dup , CM000664.1:g.48033639_48033642dup	GRCh37
NC_000002.10:g.47887143_47887146dup	NCBI36
NG_007111.1:g.28354_28357dup , LRG_219:g.28354_28357dup
NG_008397.1:g.104174_104177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3553_3556dup (MSH6)	ENSP00000406248.2:p.Phe1186TyrfsTer5
ENST00000420813.6:c.3553_3556dup (MSH6)	ENSP00000390382.2:p.Phe1186TyrfsTer5
ENST00000455383.6:c.3553_3556dup (MSH6)	ENSP00000397484.2:p.Phe1186TyrfsTer5
ENST00000700004.2:c.3466_3469dup (MSH6)	ENSP00000514752.2:p.Phe1157TyrfsTer5
ENST00000699999.1:n.4524_4527dup (MSH6)
ENST00000700000.1:c.2284_2287dup (MSH6)	ENSP00000514749.1:p.Phe763TyrfsTer5
ENST00000700002.1:c.3856_3859dup (MSH6)	ENSP00000514750.1:p.Phe1287TyrfsTer5
ENST00000700003.1:c.1305_1308dup (MSH6)	ENSP00000514751.1:n.1305_1308dup
ENST00000700004.1:c.2623_2626dup (MSH6)	ENSP00000514752.1:p.Phe876TyrfsTer5
ENST00000700005.1:n.2701_2704dup (MSH6)
ENST00000700006.1:n.5008_5011dup (MSH6)
ENST00000700007.1:n.2445_2448dup (MSH6)
ENST00000700008.1:n.2112_2115dup (MSH6)
ENST00000700009.1:n.2514_2517dup (MSH6)
ENST00000700010.1:n.1259_1262dup (MSH6)
ENST00000700011.1:n.3144_3147dup (MSH6)
ENST00000682451.1:n.4246_4249dup (FBXO11)
ENST00000684712.1:n.4508_4511dup (FBXO11)
ENST00000234420.11:c.3850_3853dup (MSH6) MANE Select	ENSP00000234420.5:p.Phe1285TyrfsTer5
ENST00000540021.6:c.3460_3463dup (MSH6)	ENSP00000446475.1:p.Phe1155TyrfsTer5
ENST00000652107.1:c.3553_3556dup (MSH6)	ENSP00000498629.1:p.Phe1186TyrfsTer5
ENST00000673637.1:c.3553_3556dup (MSH6)	ENSP00000501310.1:p.Phe1186TyrfsTer5
ENST00000234420.9:c.3850_3853dup (MSH6)	ENSP00000234420.4:p.Phe1285TyrfsTer5
ENST00000405808.5:c.169+1693_169+1696dup (FBXO11)	ENSP00000385127.1:n.169+1693_169+1696dup
ENST00000434234.5:c.*124+1492_*124+1495dup (FBXO11)	ENSP00000402692.1:n.*124+1492_*124+1495dup
ENST00000445503.5:c.*3197_*3200dup (MSH6)	ENSP00000405294.1:n.*3197_*3200dup
ENST00000538136.1:c.2944_2947dup (MSH6)	ENSP00000438580.1:p.Phe983TyrfsTer5
ENST00000540021.5:c.3460_3463dup (MSH6)	ENSP00000446475.1:p.Phe1155TyrfsTer5
ENST00000614496.4:c.2944_2947dup (MSH6)	ENSP00000477844.1:p.Phe983TyrfsTer5
ENST00000622629.4:c.751_754dup (MSH6)	ENSP00000482078.1:p.Phe252TyrfsTer5
NM_000179.2:c.3850_3853dup , LRG_219t1:c.3850_3853dup (MSH6)	NP_000170.1:p.Phe1285TyrfsTer5
NM_001281492.1:c.3460_3463dup (MSH6)	NP_001268421.1:p.Phe1155TyrfsTer5
NM_001281493.1:c.2944_2947dup (MSH6)	NP_001268422.1:p.Phe983TyrfsTer5
NM_001281494.1:c.2944_2947dup (MSH6)	NP_001268423.1:p.Phe983TyrfsTer5
XM_005264271.1:c.3553_3556dup (MSH6)	XP_005264328.1:p.Phe1186TyrfsTer5
XM_011532798.1:c.3667_3670dup (MSH6)	XP_011531100.1:p.Phe1224TyrfsTer5
XM_011532799.1:c.3553_3556dup (MSH6)	XP_011531101.1:p.Phe1186TyrfsTer5
XM_011532800.1:c.3553_3556dup (MSH6)	XP_011531102.1:p.Phe1186TyrfsTer5
XM_024452819.1:c.3943_3946dup (MSH6)	XP_024308587.1:p.Phe1316TyrfsTer5
XM_024452820.1:c.3760_3763dup (MSH6)	XP_024308588.1:p.Phe1255TyrfsTer5
XM_024452821.1:c.3646_3649dup (MSH6)	XP_024308589.1:p.Phe1217TyrfsTer5
XM_024452822.1:c.3037_3040dup (MSH6)	XP_024308590.1:p.Phe1014TyrfsTer5
NM_000179.3:c.3850_3853dup (MSH6) MANE Select	NP_000170.1:p.Phe1285TyrfsTer5
NM_001281492.2:c.3460_3463dup (MSH6)	NP_001268421.1:p.Phe1155TyrfsTer5
NM_001281493.2:c.2944_2947dup (MSH6)	NP_001268422.1:p.Phe983TyrfsTer5
NM_001281494.2:c.2944_2947dup (MSH6)	NP_001268423.1:p.Phe983TyrfsTer5