Canonical Allele Identifier: CA2580066965

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1728977
• ClinVar RCV Id: RCV002324629

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803462_47803485dup , CM000664.2:g.47803462_47803485dup	GRCh38
NC_000002.11:g.48030601_48030624dup , CM000664.1:g.48030601_48030624dup	GRCh37
NC_000002.10:g.47884105_47884128dup	NCBI36
NG_007111.1:g.25316_25339dup , LRG_219:g.25316_25339dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2918_2941dup (MSH6)	ENSP00000406248.2:p.Ile980_Leu981insArgProMetCysArgProValIle
ENST00000420813.6:c.2918_2941dup (MSH6)	ENSP00000390382.2:p.Ile980_Leu981insArgProMetCysArgProValIle
ENST00000455383.6:c.2918_2941dup (MSH6)	ENSP00000397484.2:p.Ile980_Leu981insArgProMetCysArgProValIle
ENST00000700004.2:c.3173-2156_3173-2133dup (MSH6)	ENSP00000514752.2:n.3173-2156_3173-2133dup
ENST00000699999.1:n.3299_3322dup (MSH6)
ENST00000700000.1:c.1649_1672dup (MSH6)	ENSP00000514749.1:p.Ile557_Leu558insArgProMetCysArgProValIle
ENST00000700002.1:c.3221_3244dup (MSH6)	ENSP00000514750.1:p.Ile1081_Leu1082insArgProMetCysArgProValIl...
ENST00000700003.1:c.670_693dup (MSH6)	ENSP00000514751.1:n.670_693dup
ENST00000700004.1:c.2330-2156_2330-2133dup (MSH6)	ENSP00000514752.1:n.2330-2156_2330-2133dup
ENST00000700005.1:n.2066_2089dup (MSH6)
ENST00000700006.1:n.2063_2086dup (MSH6)
ENST00000700007.1:n.1220_1243dup (MSH6)
ENST00000700008.1:n.794_817dup (MSH6)
ENST00000700009.1:n.793_816dup (MSH6)
ENST00000700010.1:n.624_647dup (MSH6)
ENST00000700011.1:n.695_718dup (MSH6)
ENST00000234420.11:c.3215_3238dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1079_Leu1080insArgProMetCysArgProValIl...
ENST00000540021.6:c.2825_2848dup (MSH6)	ENSP00000446475.1:p.Ile949_Leu950insArgProMetCysArgProValIle
ENST00000652107.1:c.2918_2941dup (MSH6)	ENSP00000498629.1:p.Ile980_Leu981insArgProMetCysArgProValIle
ENST00000673637.1:c.2918_2941dup (MSH6)	ENSP00000501310.1:p.Ile980_Leu981insArgProMetCysArgProValIle
ENST00000234420.9:c.3215_3238dup (MSH6)	ENSP00000234420.4:p.Ile1079_Leu1080insArgProMetCysArgProValIl...
ENST00000405808.5:c.169+4710_169+4733dup (FBXO11)	ENSP00000385127.1:n.169+4710_169+4733dup
ENST00000434234.5:c.*124+4509_*124+4532dup (FBXO11)	ENSP00000402692.1:n.*124+4509_*124+4532dup
ENST00000445503.5:c.*2562_*2585dup (MSH6)	ENSP00000405294.1:n.*2562_*2585dup
ENST00000538136.1:c.2309_2332dup (MSH6)	ENSP00000438580.1:p.Ile777_Leu778insArgProMetCysArgProValIle
ENST00000540021.5:c.2825_2848dup (MSH6)	ENSP00000446475.1:p.Ile949_Leu950insArgProMetCysArgProValIle
ENST00000614496.4:c.2309_2332dup (MSH6)	ENSP00000477844.1:p.Ile777_Leu778insArgProMetCysArgProValIle
ENST00000622629.4:c.119_142dup (MSH6)	ENSP00000482078.1:p.Ile47_Leu48insArgProMetCysArgProValIle
NM_000179.2:c.3215_3238dup , LRG_219t1:c.3215_3238dup (MSH6)	NP_000170.1:p.Ile1079_Leu1080insArgProMetCysArgProValIle
NM_001281492.1:c.2825_2848dup (MSH6)	NP_001268421.1:p.Ile949_Leu950insArgProMetCysArgProValIle
NM_001281493.1:c.2309_2332dup (MSH6)	NP_001268422.1:p.Ile777_Leu778insArgProMetCysArgProValIle
NM_001281494.1:c.2309_2332dup (MSH6)	NP_001268423.1:p.Ile777_Leu778insArgProMetCysArgProValIle
XM_005264271.1:c.2918_2941dup (MSH6)	XP_005264328.1:p.Ile980_Leu981insArgProMetCysArgProValIle
XM_011532798.1:c.3032_3055dup (MSH6)	XP_011531100.1:p.Ile1018_Leu1019insArgProMetCysArgProValIle
XM_011532799.1:c.2918_2941dup (MSH6)	XP_011531101.1:p.Ile980_Leu981insArgProMetCysArgProValIle
XM_011532800.1:c.2918_2941dup (MSH6)	XP_011531102.1:p.Ile980_Leu981insArgProMetCysArgProValIle
XM_024452819.1:c.3215_3238dup (MSH6)	XP_024308587.1:p.Ile1079_Leu1080insArgProMetCysArgProValIle
XM_024452820.1:c.3032_3055dup (MSH6)	XP_024308588.1:p.Ile1018_Leu1019insArgProMetCysArgProValIle
XM_024452821.1:c.2918_2941dup (MSH6)	XP_024308589.1:p.Ile980_Leu981insArgProMetCysArgProValIle
XM_024452822.1:c.2309_2332dup (MSH6)	XP_024308590.1:p.Ile777_Leu778insArgProMetCysArgProValIle
NM_000179.3:c.3215_3238dup (MSH6) MANE Select	NP_000170.1:p.Ile1079_Leu1080insArgProMetCysArgProValIle
NM_001281492.2:c.2825_2848dup (MSH6)	NP_001268421.1:p.Ile949_Leu950insArgProMetCysArgProValIle
NM_001281493.2:c.2309_2332dup (MSH6)	NP_001268422.1:p.Ile777_Leu778insArgProMetCysArgProValIle
NM_001281494.2:c.2309_2332dup (MSH6)	NP_001268423.1:p.Ile777_Leu778insArgProMetCysArgProValIle