Canonical Allele Identifier: CA2695200652

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673584
• ClinVar RCV Id: RCV003450221

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806572_47806603dup , CM000664.2:g.47806572_47806603dup	GRCh38
NC_000002.11:g.48033711_48033742dup , CM000664.1:g.48033711_48033742dup	GRCh37
NC_000002.10:g.47887215_47887246dup	NCBI36
NG_007111.1:g.28426_28457dup , LRG_219:g.28426_28457dup
NG_008397.1:g.104073_104104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3625_3656dup (MSH6)	ENSP00000406248.2:p.Arg1219SerfsTer20
ENST00000420813.6:c.3625_3656dup (MSH6)	ENSP00000390382.2:p.Arg1219SerfsTer20
ENST00000455383.6:c.3625_3656dup (MSH6)	ENSP00000397484.2:p.Arg1219SerfsTer20
ENST00000700004.2:c.3538_3569dup (MSH6)	ENSP00000514752.2:p.Arg1190SerfsTer20
ENST00000699999.1:n.4596_4627dup (MSH6)
ENST00000700000.1:c.2356_2387dup (MSH6)	ENSP00000514749.1:p.Arg796SerfsTer20
ENST00000700002.1:c.3928_3959dup (MSH6)	ENSP00000514750.1:p.Arg1320SerfsTer20
ENST00000700003.1:c.1377_1408dup (MSH6)	ENSP00000514751.1:n.1377_1408dup
ENST00000700004.1:c.2695_2726dup (MSH6)	ENSP00000514752.1:p.Arg909SerfsTer20
ENST00000700005.1:n.2773_2804dup (MSH6)
ENST00000700006.1:n.5080_5111dup (MSH6)
ENST00000700007.1:n.2517_2548dup (MSH6)
ENST00000700008.1:n.2184_2215dup (MSH6)
ENST00000700009.1:n.2586_2617dup (MSH6)
ENST00000700010.1:n.1331_1362dup (MSH6)
ENST00000700011.1:n.3216_3247dup (MSH6)
ENST00000682451.1:n.4145_4176dup (FBXO11)
ENST00000684712.1:n.4407_4438dup (FBXO11)
ENST00000234420.11:c.3922_3953dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1318SerfsTer20
ENST00000540021.6:c.3532_3563dup (MSH6)	ENSP00000446475.1:p.Arg1188SerfsTer20
ENST00000652107.1:c.3625_3656dup (MSH6)	ENSP00000498629.1:p.Arg1219SerfsTer20
ENST00000673637.1:c.3625_3656dup (MSH6)	ENSP00000501310.1:p.Arg1219SerfsTer20
ENST00000234420.9:c.3922_3953dup (MSH6)	ENSP00000234420.4:p.Arg1318SerfsTer20
ENST00000405808.5:c.169+1592_169+1623dup (FBXO11)	ENSP00000385127.1:n.169+1592_169+1623dup
ENST00000434234.5:c.*124+1391_*124+1422dup (FBXO11)	ENSP00000402692.1:n.*124+1391_*124+1422dup
ENST00000445503.5:c.*3269_*3300dup (MSH6)	ENSP00000405294.1:n.*3269_*3300dup
ENST00000538136.1:c.3016_3047dup (MSH6)	ENSP00000438580.1:p.Arg1016SerfsTer20
ENST00000540021.5:c.3532_3563dup (MSH6)	ENSP00000446475.1:p.Arg1188SerfsTer20
ENST00000614496.4:c.3016_3047dup (MSH6)	ENSP00000477844.1:p.Arg1016SerfsTer20
ENST00000622629.4:c.823_854dup (MSH6)	ENSP00000482078.1:p.Arg285SerfsTer20
NM_000179.2:c.3922_3953dup , LRG_219t1:c.3922_3953dup (MSH6)	NP_000170.1:p.Arg1318SerfsTer20
NM_001281492.1:c.3532_3563dup (MSH6)	NP_001268421.1:p.Arg1188SerfsTer20
NM_001281493.1:c.3016_3047dup (MSH6)	NP_001268422.1:p.Arg1016SerfsTer20
NM_001281494.1:c.3016_3047dup (MSH6)	NP_001268423.1:p.Arg1016SerfsTer20
XM_005264271.1:c.3625_3656dup (MSH6)	XP_005264328.1:p.Arg1219SerfsTer20
XM_011532798.1:c.3739_3770dup (MSH6)	XP_011531100.1:p.Arg1257SerfsTer20
XM_011532799.1:c.3625_3656dup (MSH6)	XP_011531101.1:p.Arg1219SerfsTer20
XM_011532800.1:c.3625_3656dup (MSH6)	XP_011531102.1:p.Arg1219SerfsTer20
XM_024452819.1:c.4015_4046dup (MSH6)	XP_024308587.1:p.Arg1349SerfsTer20
XM_024452820.1:c.3832_3863dup (MSH6)	XP_024308588.1:p.Arg1288SerfsTer20
XM_024452821.1:c.3718_3749dup (MSH6)	XP_024308589.1:p.Arg1250SerfsTer20
XM_024452822.1:c.3109_3140dup (MSH6)	XP_024308590.1:p.Arg1047SerfsTer20
NM_000179.3:c.3922_3953dup (MSH6) MANE Select	NP_000170.1:p.Arg1318SerfsTer20
NM_001281492.2:c.3532_3563dup (MSH6)	NP_001268421.1:p.Arg1188SerfsTer20
NM_001281493.2:c.3016_3047dup (MSH6)	NP_001268422.1:p.Arg1016SerfsTer20
NM_001281494.2:c.3016_3047dup (MSH6)	NP_001268423.1:p.Arg1016SerfsTer20