Canonical Allele Identifier: CA2695200527

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673753
• ClinVar RCV Id: RCV003450390

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806609_47806612dup , CM000664.2:g.47806609_47806612dup	GRCh38
NC_000002.11:g.48033748_48033751dup , CM000664.1:g.48033748_48033751dup	GRCh37
NC_000002.10:g.47887252_47887255dup	NCBI36
NG_007111.1:g.28463_28466dup , LRG_219:g.28463_28466dup
NG_008397.1:g.104067_104070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3662_3665dup (MSH6)	ENSP00000406248.2:p.Arg1222SerfsTer5
ENST00000420813.6:c.3662_3665dup (MSH6)	ENSP00000390382.2:p.Arg1222SerfsTer5
ENST00000455383.6:c.3662_3665dup (MSH6)	ENSP00000397484.2:p.Arg1222SerfsTer5
ENST00000700004.2:c.3575_3578dup (MSH6)	ENSP00000514752.2:p.Arg1193SerfsTer5
ENST00000699999.1:n.4633_4636dup (MSH6)
ENST00000700000.1:c.2393_2396dup (MSH6)	ENSP00000514749.1:p.Arg799SerfsTer5
ENST00000700002.1:c.3965_3968dup (MSH6)	ENSP00000514750.1:p.Arg1323SerfsTer5
ENST00000700003.1:c.1414_1417dup (MSH6)	ENSP00000514751.1:n.1414_1417dup
ENST00000700004.1:c.2732_2735dup (MSH6)	ENSP00000514752.1:p.Arg912SerfsTer5
ENST00000700005.1:n.2810_2813dup (MSH6)
ENST00000700006.1:n.5117_5120dup (MSH6)
ENST00000700007.1:n.2554_2557dup (MSH6)
ENST00000700008.1:n.2221_2224dup (MSH6)
ENST00000700009.1:n.2623_2626dup (MSH6)
ENST00000700010.1:n.1368_1371dup (MSH6)
ENST00000700011.1:n.3253_3256dup (MSH6)
ENST00000682451.1:n.4139_4142dup (FBXO11)
ENST00000684712.1:n.4401_4404dup (FBXO11)
ENST00000234420.11:c.3959_3962dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1321SerfsTer5
ENST00000540021.6:c.3569_3572dup (MSH6)	ENSP00000446475.1:p.Arg1191SerfsTer5
ENST00000652107.1:c.3662_3665dup (MSH6)	ENSP00000498629.1:p.Arg1222SerfsTer5
ENST00000673637.1:c.3662_3665dup (MSH6)	ENSP00000501310.1:p.Arg1222SerfsTer5
ENST00000234420.9:c.3959_3962dup (MSH6)	ENSP00000234420.4:p.Arg1321SerfsTer5
ENST00000405808.5:c.169+1586_169+1589dup (FBXO11)	ENSP00000385127.1:n.169+1586_169+1589dup
ENST00000434234.5:c.*124+1385_*124+1388dup (FBXO11)	ENSP00000402692.1:n.*124+1385_*124+1388dup
ENST00000445503.5:c.*3306_*3309dup (MSH6)	ENSP00000405294.1:n.*3306_*3309dup
ENST00000538136.1:c.3053_3056dup (MSH6)	ENSP00000438580.1:p.Arg1019SerfsTer5
ENST00000540021.5:c.3569_3572dup (MSH6)	ENSP00000446475.1:p.Arg1191SerfsTer5
ENST00000614496.4:c.3053_3056dup (MSH6)	ENSP00000477844.1:p.Arg1019SerfsTer5
ENST00000622629.4:c.860_863dup (MSH6)	ENSP00000482078.1:p.Arg288SerfsTer5
NM_000179.2:c.3959_3962dup , LRG_219t1:c.3959_3962dup (MSH6)	NP_000170.1:p.Arg1321SerfsTer5
NM_001281492.1:c.3569_3572dup (MSH6)	NP_001268421.1:p.Arg1191SerfsTer5
NM_001281493.1:c.3053_3056dup (MSH6)	NP_001268422.1:p.Arg1019SerfsTer5
NM_001281494.1:c.3053_3056dup (MSH6)	NP_001268423.1:p.Arg1019SerfsTer5
XM_005264271.1:c.3662_3665dup (MSH6)	XP_005264328.1:p.Arg1222SerfsTer5
XM_011532798.1:c.3776_3779dup (MSH6)	XP_011531100.1:p.Arg1260SerfsTer5
XM_011532799.1:c.3662_3665dup (MSH6)	XP_011531101.1:p.Arg1222SerfsTer5
XM_011532800.1:c.3662_3665dup (MSH6)	XP_011531102.1:p.Arg1222SerfsTer5
XM_024452819.1:c.4052_4055dup (MSH6)	XP_024308587.1:p.Arg1352SerfsTer5
XM_024452820.1:c.3869_3872dup (MSH6)	XP_024308588.1:p.Arg1291SerfsTer5
XM_024452821.1:c.3755_3758dup (MSH6)	XP_024308589.1:p.Arg1253SerfsTer5
XM_024452822.1:c.3146_3149dup (MSH6)	XP_024308590.1:p.Arg1050SerfsTer5
NM_000179.3:c.3959_3962dup (MSH6) MANE Select	NP_000170.1:p.Arg1321SerfsTer5
NM_001281492.2:c.3569_3572dup (MSH6)	NP_001268421.1:p.Arg1191SerfsTer5
NM_001281493.2:c.3053_3056dup (MSH6)	NP_001268422.1:p.Arg1019SerfsTer5
NM_001281494.2:c.3053_3056dup (MSH6)	NP_001268423.1:p.Arg1019SerfsTer5