Canonical Allele Identifier: CA2695200619

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673737
• ClinVar RCV Id: RCV003450374 ; RCV003594675

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806355_47806358dup , CM000664.2:g.47806355_47806358dup	GRCh38
NC_000002.11:g.48033494_48033497dup , CM000664.1:g.48033494_48033497dup	GRCh37
NC_000002.10:g.47886998_47887001dup	NCBI36
NG_007111.1:g.28209_28212dup , LRG_219:g.28209_28212dup
NG_008397.1:g.104318_104321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3501_3504dup (MSH6)	ENSP00000406248.2:p.Ala1169TyrfsTer8
ENST00000420813.6:c.3501_3504dup (MSH6)	ENSP00000390382.2:p.Ala1169TyrfsTer8
ENST00000455383.6:c.3501_3504dup (MSH6)	ENSP00000397484.2:p.Ala1169TyrfsTer8
ENST00000700004.2:c.3414_3417dup (MSH6)	ENSP00000514752.2:p.Ala1140TyrfsTer8
ENST00000699999.1:n.4472_4475dup (MSH6)
ENST00000700000.1:c.2232_2235dup (MSH6)	ENSP00000514749.1:p.Ala746TyrfsTer8
ENST00000700002.1:c.3804_3807dup (MSH6)	ENSP00000514750.1:p.Ala1270TyrfsTer8
ENST00000700003.1:c.1253_1256dup (MSH6)	ENSP00000514751.1:n.1253_1256dup
ENST00000700004.1:c.2571_2574dup (MSH6)	ENSP00000514752.1:p.Ala859TyrfsTer8
ENST00000700005.1:n.2649_2652dup (MSH6)
ENST00000700006.1:n.4956_4959dup (MSH6)
ENST00000700007.1:n.2393_2396dup (MSH6)
ENST00000700008.1:n.1967_1970dup (MSH6)
ENST00000700009.1:n.2462_2465dup (MSH6)
ENST00000700010.1:n.1207_1210dup (MSH6)
ENST00000700011.1:n.3092_3095dup (MSH6)
ENST00000682451.1:n.4390_4393dup (FBXO11)
ENST00000684712.1:n.4652_4655dup (FBXO11)
ENST00000234420.11:c.3798_3801dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1268TyrfsTer8
ENST00000540021.6:c.3408_3411dup (MSH6)	ENSP00000446475.1:p.Ala1138TyrfsTer8
ENST00000652107.1:c.3501_3504dup (MSH6)	ENSP00000498629.1:p.Ala1169TyrfsTer8
ENST00000673637.1:c.3501_3504dup (MSH6)	ENSP00000501310.1:p.Ala1169TyrfsTer8
ENST00000234420.9:c.3798_3801dup (MSH6)	ENSP00000234420.4:p.Ala1268TyrfsTer8
ENST00000405808.5:c.169+1837_169+1840dup (FBXO11)	ENSP00000385127.1:n.169+1837_169+1840dup
ENST00000434234.5:c.*124+1636_*124+1639dup (FBXO11)	ENSP00000402692.1:n.*124+1636_*124+1639dup
ENST00000445503.5:c.*3145_*3148dup (MSH6)	ENSP00000405294.1:n.*3145_*3148dup
ENST00000538136.1:c.2892_2895dup (MSH6)	ENSP00000438580.1:p.Ala966TyrfsTer8
ENST00000540021.5:c.3408_3411dup (MSH6)	ENSP00000446475.1:p.Ala1138TyrfsTer8
ENST00000614496.4:c.2892_2895dup (MSH6)	ENSP00000477844.1:p.Ala966TyrfsTer8
ENST00000622629.4:c.699_702dup (MSH6)	ENSP00000482078.1:p.Ala235TyrfsTer8
NM_000179.2:c.3798_3801dup , LRG_219t1:c.3798_3801dup (MSH6)	NP_000170.1:p.Ala1268TyrfsTer8
NM_001281492.1:c.3408_3411dup (MSH6)	NP_001268421.1:p.Ala1138TyrfsTer8
NM_001281493.1:c.2892_2895dup (MSH6)	NP_001268422.1:p.Ala966TyrfsTer8
NM_001281494.1:c.2892_2895dup (MSH6)	NP_001268423.1:p.Ala966TyrfsTer8
XM_005264271.1:c.3501_3504dup (MSH6)	XP_005264328.1:p.Ala1169TyrfsTer8
XM_011532798.1:c.3615_3618dup (MSH6)	XP_011531100.1:p.Ala1207TyrfsTer8
XM_011532799.1:c.3501_3504dup (MSH6)	XP_011531101.1:p.Ala1169TyrfsTer8
XM_011532800.1:c.3501_3504dup (MSH6)	XP_011531102.1:p.Ala1169TyrfsTer8
XM_024452819.1:c.3798_3801dup (MSH6)	XP_024308587.1:p.Val1268TyrfsTer15
XM_024452820.1:c.3615_3618dup (MSH6)	XP_024308588.1:p.Val1207TyrfsTer15
XM_024452821.1:c.3501_3504dup (MSH6)	XP_024308589.1:p.Val1169TyrfsTer15
XM_024452822.1:c.2892_2895dup (MSH6)	XP_024308590.1:p.Val966TyrfsTer15
NM_000179.3:c.3798_3801dup (MSH6) MANE Select	NP_000170.1:p.Ala1268TyrfsTer8
NM_001281492.2:c.3408_3411dup (MSH6)	NP_001268421.1:p.Ala1138TyrfsTer8
NM_001281493.2:c.2892_2895dup (MSH6)	NP_001268422.1:p.Ala966TyrfsTer8
NM_001281494.2:c.2892_2895dup (MSH6)	NP_001268423.1:p.Ala966TyrfsTer8