Canonical Allele Identifier: CA916080291

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 842821
• ClinVar RCV Id: RCV001045304 ; RCV002348371
• dbSNP Id: rs1670061805
• gnomAD v4: 2-47806319-A-AGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806320_47806322dup , CM000664.2:g.47806320_47806322dup	GRCh38
NC_000002.11:g.48033459_48033461dup , CM000664.1:g.48033459_48033461dup	GRCh37
NC_000002.10:g.47886963_47886965dup	NCBI36
NG_007111.1:g.28174_28176dup , LRG_219:g.28174_28176dup
NG_008397.1:g.104354_104356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3466_3468dup (MSH6)	ENSP00000406248.2:p.Asp1156_Tyr1157insAsp
ENST00000420813.6:c.3466_3468dup (MSH6)	ENSP00000390382.2:p.Asp1156_Tyr1157insAsp
ENST00000455383.6:c.3466_3468dup (MSH6)	ENSP00000397484.2:p.Asp1156_Tyr1157insAsp
ENST00000700004.2:c.3379_3381dup (MSH6)	ENSP00000514752.2:p.Asp1127_Tyr1128insAsp
ENST00000699999.1:n.4437_4439dup (MSH6)
ENST00000700000.1:c.2197_2199dup (MSH6)	ENSP00000514749.1:p.Asp733_Tyr734insAsp
ENST00000700002.1:c.3769_3771dup (MSH6)	ENSP00000514750.1:p.Asp1257_Tyr1258insAsp
ENST00000700003.1:c.1218_1220dup (MSH6)	ENSP00000514751.1:n.1218_1220dup
ENST00000700004.1:c.2536_2538dup (MSH6)	ENSP00000514752.1:p.Asp846_Tyr847insAsp
ENST00000700005.1:n.2614_2616dup (MSH6)
ENST00000700006.1:n.4921_4923dup (MSH6)
ENST00000700007.1:n.2358_2360dup (MSH6)
ENST00000700008.1:n.1932_1934dup (MSH6)
ENST00000700009.1:n.2427_2429dup (MSH6)
ENST00000700010.1:n.1172_1174dup (MSH6)
ENST00000700011.1:n.3057_3059dup (MSH6)
ENST00000682451.1:n.4426_4428dup (FBXO11)
ENST00000684712.1:n.4688_4690dup (FBXO11)
ENST00000234420.11:c.3763_3765dup (MSH6) MANE Select	ENSP00000234420.5:p.Asp1255_Tyr1256insAsp
ENST00000540021.6:c.3373_3375dup (MSH6)	ENSP00000446475.1:p.Asp1125_Tyr1126insAsp
ENST00000652107.1:c.3466_3468dup (MSH6)	ENSP00000498629.1:p.Asp1156_Tyr1157insAsp
ENST00000673637.1:c.3466_3468dup (MSH6)	ENSP00000501310.1:p.Asp1156_Tyr1157insAsp
ENST00000234420.9:c.3763_3765dup (MSH6)	ENSP00000234420.4:p.Asp1255_Tyr1256insAsp
ENST00000405808.5:c.169+1873_169+1875dup (FBXO11)	ENSP00000385127.1:n.169+1873_169+1875dup
ENST00000434234.5:c.*124+1672_*124+1674dup (FBXO11)	ENSP00000402692.1:n.*124+1672_*124+1674dup
ENST00000445503.5:c.*3110_*3112dup (MSH6)	ENSP00000405294.1:n.*3110_*3112dup
ENST00000538136.1:c.2857_2859dup (MSH6)	ENSP00000438580.1:p.Asp953_Tyr954insAsp
ENST00000540021.5:c.3373_3375dup (MSH6)	ENSP00000446475.1:p.Asp1125_Tyr1126insAsp
ENST00000614496.4:c.2857_2859dup (MSH6)	ENSP00000477844.1:p.Asp953_Tyr954insAsp
ENST00000622629.4:c.665_667dup (MSH6)	ENSP00000482078.1:p.Leu223Ter
NM_000179.2:c.3763_3765dup , LRG_219t1:c.3763_3765dup (MSH6)	NP_000170.1:p.Asp1255_Tyr1256insAsp
NM_001281492.1:c.3373_3375dup (MSH6)	NP_001268421.1:p.Asp1125_Tyr1126insAsp
NM_001281493.1:c.2857_2859dup (MSH6)	NP_001268422.1:p.Asp953_Tyr954insAsp
NM_001281494.1:c.2857_2859dup (MSH6)	NP_001268423.1:p.Asp953_Tyr954insAsp
XM_005264271.1:c.3466_3468dup (MSH6)	XP_005264328.1:p.Asp1156_Tyr1157insAsp
XM_011532798.1:c.3580_3582dup (MSH6)	XP_011531100.1:p.Asp1194_Tyr1195insAsp
XM_011532799.1:c.3466_3468dup (MSH6)	XP_011531101.1:p.Asp1156_Tyr1157insAsp
XM_011532800.1:c.3466_3468dup (MSH6)	XP_011531102.1:p.Asp1156_Tyr1157insAsp
XM_024452819.1:c.3763_3765dup (MSH6)	XP_024308587.1:p.Asp1255_Tyr1256insAsp
XM_024452820.1:c.3580_3582dup (MSH6)	XP_024308588.1:p.Asp1194_Tyr1195insAsp
XM_024452821.1:c.3466_3468dup (MSH6)	XP_024308589.1:p.Asp1156_Tyr1157insAsp
XM_024452822.1:c.2857_2859dup (MSH6)	XP_024308590.1:p.Asp953_Tyr954insAsp
NM_000179.3:c.3763_3765dup (MSH6) MANE Select	NP_000170.1:p.Asp1255_Tyr1256insAsp
NM_001281492.2:c.3373_3375dup (MSH6)	NP_001268421.1:p.Asp1125_Tyr1126insAsp
NM_001281493.2:c.2857_2859dup (MSH6)	NP_001268422.1:p.Asp953_Tyr954insAsp
NM_001281494.2:c.2857_2859dup (MSH6)	NP_001268423.1:p.Asp953_Tyr954insAsp