Canonical Allele Identifier: CA2695200522

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673759
• ClinVar RCV Id: RCV003450396

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806597_47806601dup , CM000664.2:g.47806597_47806601dup	GRCh38
NC_000002.11:g.48033736_48033740dup , CM000664.1:g.48033736_48033740dup	GRCh37
NC_000002.10:g.47887240_47887244dup	NCBI36
NG_007111.1:g.28451_28455dup , LRG_219:g.28451_28455dup
NG_008397.1:g.104075_104079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3650_3654dup (MSH6)	ENSP00000406248.2:p.Arg1219AspfsTer11
ENST00000420813.6:c.3650_3654dup (MSH6)	ENSP00000390382.2:p.Arg1219AspfsTer11
ENST00000455383.6:c.3650_3654dup (MSH6)	ENSP00000397484.2:p.Arg1219AspfsTer11
ENST00000700004.2:c.3563_3567dup (MSH6)	ENSP00000514752.2:p.Arg1190AspfsTer11
ENST00000699999.1:n.4621_4625dup (MSH6)
ENST00000700000.1:c.2381_2385dup (MSH6)	ENSP00000514749.1:p.Arg796AspfsTer11
ENST00000700002.1:c.3953_3957dup (MSH6)	ENSP00000514750.1:p.Arg1320AspfsTer11
ENST00000700003.1:c.1402_1406dup (MSH6)	ENSP00000514751.1:n.1402_1406dup
ENST00000700004.1:c.2720_2724dup (MSH6)	ENSP00000514752.1:p.Arg909AspfsTer11
ENST00000700005.1:n.2798_2802dup (MSH6)
ENST00000700006.1:n.5105_5109dup (MSH6)
ENST00000700007.1:n.2542_2546dup (MSH6)
ENST00000700008.1:n.2209_2213dup (MSH6)
ENST00000700009.1:n.2611_2615dup (MSH6)
ENST00000700010.1:n.1356_1360dup (MSH6)
ENST00000700011.1:n.3241_3245dup (MSH6)
ENST00000682451.1:n.4147_4151dup (FBXO11)
ENST00000684712.1:n.4409_4413dup (FBXO11)
ENST00000234420.11:c.3947_3951dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1318AspfsTer11
ENST00000540021.6:c.3557_3561dup (MSH6)	ENSP00000446475.1:p.Arg1188AspfsTer11
ENST00000652107.1:c.3650_3654dup (MSH6)	ENSP00000498629.1:p.Arg1219AspfsTer11
ENST00000673637.1:c.3650_3654dup (MSH6)	ENSP00000501310.1:p.Arg1219AspfsTer11
ENST00000234420.9:c.3947_3951dup (MSH6)	ENSP00000234420.4:p.Arg1318AspfsTer11
ENST00000405808.5:c.169+1594_169+1598dup (FBXO11)	ENSP00000385127.1:n.169+1594_169+1598dup
ENST00000434234.5:c.*124+1393_*124+1397dup (FBXO11)	ENSP00000402692.1:n.*124+1393_*124+1397dup
ENST00000445503.5:c.*3294_*3298dup (MSH6)	ENSP00000405294.1:n.*3294_*3298dup
ENST00000538136.1:c.3041_3045dup (MSH6)	ENSP00000438580.1:p.Arg1016AspfsTer11
ENST00000540021.5:c.3557_3561dup (MSH6)	ENSP00000446475.1:p.Arg1188AspfsTer11
ENST00000614496.4:c.3041_3045dup (MSH6)	ENSP00000477844.1:p.Arg1016AspfsTer11
ENST00000622629.4:c.848_852dup (MSH6)	ENSP00000482078.1:p.Arg285AspfsTer11
NM_000179.2:c.3947_3951dup , LRG_219t1:c.3947_3951dup (MSH6)	NP_000170.1:p.Arg1318AspfsTer11
NM_001281492.1:c.3557_3561dup (MSH6)	NP_001268421.1:p.Arg1188AspfsTer11
NM_001281493.1:c.3041_3045dup (MSH6)	NP_001268422.1:p.Arg1016AspfsTer11
NM_001281494.1:c.3041_3045dup (MSH6)	NP_001268423.1:p.Arg1016AspfsTer11
XM_005264271.1:c.3650_3654dup (MSH6)	XP_005264328.1:p.Arg1219AspfsTer11
XM_011532798.1:c.3764_3768dup (MSH6)	XP_011531100.1:p.Arg1257AspfsTer11
XM_011532799.1:c.3650_3654dup (MSH6)	XP_011531101.1:p.Arg1219AspfsTer11
XM_011532800.1:c.3650_3654dup (MSH6)	XP_011531102.1:p.Arg1219AspfsTer11
XM_024452819.1:c.4040_4044dup (MSH6)	XP_024308587.1:p.Arg1349AspfsTer11
XM_024452820.1:c.3857_3861dup (MSH6)	XP_024308588.1:p.Arg1288AspfsTer11
XM_024452821.1:c.3743_3747dup (MSH6)	XP_024308589.1:p.Arg1250AspfsTer11
XM_024452822.1:c.3134_3138dup (MSH6)	XP_024308590.1:p.Arg1047AspfsTer11
NM_000179.3:c.3947_3951dup (MSH6) MANE Select	NP_000170.1:p.Arg1318AspfsTer11
NM_001281492.2:c.3557_3561dup (MSH6)	NP_001268421.1:p.Arg1188AspfsTer11
NM_001281493.2:c.3041_3045dup (MSH6)	NP_001268422.1:p.Arg1016AspfsTer11
NM_001281494.2:c.3041_3045dup (MSH6)	NP_001268423.1:p.Arg1016AspfsTer11