Canonical Allele Identifier: CA2697548117

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2744364
• ClinVar RCV Id: RCV003593568

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798755_47798757dup , CM000664.2:g.47798755_47798757dup	GRCh38
NC_000002.11:g.48025894_48025896dup , CM000664.1:g.48025894_48025896dup	GRCh37
NC_000002.10:g.47879398_47879400dup	NCBI36
NG_007111.1:g.20609_20611dup , LRG_219:g.20609_20611dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.475_477dup (MSH6)	ENSP00000406248.2:p.Ile159_Gly160insIle
ENST00000420813.6:c.475_477dup (MSH6)	ENSP00000390382.2:p.Ile159_Gly160insIle
ENST00000455383.6:c.475_477dup (MSH6)	ENSP00000397484.2:p.Ile159_Gly160insIle
ENST00000700004.2:c.772_774dup (MSH6)	ENSP00000514752.2:p.Ile258_Gly259insIle
ENST00000699999.1:n.856_858dup (MSH6)
ENST00000700000.1:c.772_774dup (MSH6)	ENSP00000514749.1:p.Ile258_Gly259insIle
ENST00000700002.1:c.778_780dup (MSH6)	ENSP00000514750.1:p.Ile260_Gly261insIle
ENST00000700003.1:c.627+2692_627+2694dup (MSH6)	ENSP00000514751.1:n.627+2692_627+2694dup
ENST00000234420.11:c.772_774dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile258_Gly259insIle
ENST00000540021.6:c.382_384dup (MSH6)	ENSP00000446475.1:p.Ile128_Gly129insIle
ENST00000652107.1:c.475_477dup (MSH6)	ENSP00000498629.1:p.Ile159_Gly160insIle
ENST00000673637.1:c.475_477dup (MSH6)	ENSP00000501310.1:p.Ile159_Gly160insIle
ENST00000673922.1:n.494_496dup (MSH6)
ENST00000234420.9:c.772_774dup (MSH6)	ENSP00000234420.4:p.Ile258_Gly259insIle
ENST00000405808.5:c.170-9317_170-9315dup (FBXO11)	ENSP00000385127.1:n.170-9317_170-9315dup
ENST00000434234.5:c.*124+9237_*124+9239dup (FBXO11)	ENSP00000402692.1:n.*124+9237_*124+9239dup
ENST00000445503.5:c.*119_*121dup (MSH6)	ENSP00000405294.1:n.*119_*121dup
ENST00000456246.1:c.*260_*262dup (MSH6)	ENSP00000410570.1:n.*260_*262dup
ENST00000538136.1:c.-135_-133dup (MSH6)	ENSP00000438580.1:n.-135_-133dup
ENST00000540021.5:c.382_384dup (MSH6)	ENSP00000446475.1:p.Ile128_Gly129insIle
ENST00000614496.4:c.-135_-133dup (MSH6)	ENSP00000477844.1:n.-135_-133dup
ENST00000616033.4:c.769_771dup (MSH6)	ENSP00000480261.1:p.Ile257_Gly258insIle
ENST00000622629.4:c.-2325_-2323dup (MSH6)	ENSP00000482078.1:n.-2325_-2323dup
NM_000179.2:c.772_774dup , LRG_219t1:c.772_774dup (MSH6)	NP_000170.1:p.Ile258_Gly259insIle
NM_001281492.1:c.382_384dup (MSH6)	NP_001268421.1:p.Ile128_Gly129insIle
NM_001281493.1:c.-135_-133dup (MSH6)	NP_001268422.1:n.-135_-133dup
NM_001281494.1:c.-135_-133dup (MSH6)	NP_001268423.1:n.-135_-133dup
XM_005264271.1:c.475_477dup (MSH6)	XP_005264328.1:p.Ile159_Gly160insIle
XM_011532798.1:c.589_591dup (MSH6)	XP_011531100.1:p.Ile197_Gly198insIle
XM_011532799.1:c.475_477dup (MSH6)	XP_011531101.1:p.Ile159_Gly160insIle
XM_011532800.1:c.475_477dup (MSH6)	XP_011531102.1:p.Ile159_Gly160insIle
XM_024452819.1:c.772_774dup (MSH6)	XP_024308587.1:p.Ile258_Gly259insIle
XM_024452820.1:c.589_591dup (MSH6)	XP_024308588.1:p.Ile197_Gly198insIle
XM_024452821.1:c.475_477dup (MSH6)	XP_024308589.1:p.Ile159_Gly160insIle
XM_024452822.1:c.-135_-133dup (MSH6)	XP_024308590.1:n.-135_-133dup
NM_000179.3:c.772_774dup (MSH6) MANE Select	NP_000170.1:p.Ile258_Gly259insIle
NM_001281492.2:c.382_384dup (MSH6)	NP_001268421.1:p.Ile128_Gly129insIle
NM_001281493.2:c.-135_-133dup (MSH6)	NP_001268422.1:n.-135_-133dup
NM_001281494.2:c.-135_-133dup (MSH6)	NP_001268423.1:n.-135_-133dup