Canonical Allele Identifier: CA2580067313

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734501
• ClinVar RCV Id: RCV002349257

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806302_47806305del , CM000664.2:g.47806302_47806305del	GRCh38
NC_000002.11:g.48033441_48033444del , CM000664.1:g.48033441_48033444del	GRCh37
NC_000002.10:g.47886945_47886948del	NCBI36
NG_007111.1:g.28156_28159del , LRG_219:g.28156_28159del
NG_008397.1:g.104372_104375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3448_3451del (MSH6)	ENSP00000406248.2:p.Tyr1150IlefsTer3
ENST00000420813.6:c.3448_3451del (MSH6)	ENSP00000390382.2:p.Tyr1150IlefsTer3
ENST00000455383.6:c.3448_3451del (MSH6)	ENSP00000397484.2:p.Tyr1150IlefsTer3
ENST00000700004.2:c.3361_3364del (MSH6)	ENSP00000514752.2:p.Tyr1121IlefsTer3
ENST00000699999.1:n.4419_4422del (MSH6)
ENST00000700000.1:c.2179_2182del (MSH6)	ENSP00000514749.1:p.Tyr727IlefsTer3
ENST00000700002.1:c.3751_3754del (MSH6)	ENSP00000514750.1:p.Tyr1251IlefsTer3
ENST00000700003.1:c.1200_1203del (MSH6)	ENSP00000514751.1:n.1200_1203del
ENST00000700004.1:c.2518_2521del (MSH6)	ENSP00000514752.1:p.Tyr840IlefsTer3
ENST00000700005.1:n.2596_2599del (MSH6)
ENST00000700006.1:n.4903_4906del (MSH6)
ENST00000700007.1:n.2340_2343del (MSH6)
ENST00000700008.1:n.1914_1917del (MSH6)
ENST00000700009.1:n.2409_2412del (MSH6)
ENST00000700010.1:n.1154_1157del (MSH6)
ENST00000700011.1:n.3039_3042del (MSH6)
ENST00000682451.1:n.4444_4447del (FBXO11)
ENST00000684712.1:n.4706_4709del (FBXO11)
ENST00000234420.11:c.3745_3748del (MSH6) MANE Select	ENSP00000234420.5:p.Tyr1249IlefsTer3
ENST00000540021.6:c.3355_3358del (MSH6)	ENSP00000446475.1:p.Tyr1119IlefsTer3
ENST00000652107.1:c.3448_3451del (MSH6)	ENSP00000498629.1:p.Tyr1150IlefsTer3
ENST00000673637.1:c.3448_3451del (MSH6)	ENSP00000501310.1:p.Tyr1150IlefsTer3
ENST00000234420.9:c.3745_3748del (MSH6)	ENSP00000234420.4:p.Tyr1249IlefsTer3
ENST00000405808.5:c.169+1891_169+1894del (FBXO11)	ENSP00000385127.1:n.169+1891_169+1894del
ENST00000434234.5:c.*124+1690_*124+1693del (FBXO11)	ENSP00000402692.1:n.*124+1690_*124+1693del
ENST00000445503.5:c.*3092_*3095del (MSH6)	ENSP00000405294.1:n.*3092_*3095del
ENST00000538136.1:c.2839_2842del (MSH6)	ENSP00000438580.1:p.Tyr947IlefsTer3
ENST00000540021.5:c.3355_3358del (MSH6)	ENSP00000446475.1:p.Tyr1119IlefsTer3
ENST00000614496.4:c.2839_2842del (MSH6)	ENSP00000477844.1:p.Tyr947IlefsTer3
ENST00000622629.4:c.649_652del (MSH6)	ENSP00000482078.1:p.Tyr217IlefsTer14
NM_000179.2:c.3745_3748del , LRG_219t1:c.3745_3748del (MSH6)	NP_000170.1:p.Tyr1249IlefsTer3
NM_001281492.1:c.3355_3358del (MSH6)	NP_001268421.1:p.Tyr1119IlefsTer3
NM_001281493.1:c.2839_2842del (MSH6)	NP_001268422.1:p.Tyr947IlefsTer3
NM_001281494.1:c.2839_2842del (MSH6)	NP_001268423.1:p.Tyr947IlefsTer3
XM_005264271.1:c.3448_3451del (MSH6)	XP_005264328.1:p.Tyr1150IlefsTer3
XM_011532798.1:c.3562_3565del (MSH6)	XP_011531100.1:p.Tyr1188IlefsTer3
XM_011532799.1:c.3448_3451del (MSH6)	XP_011531101.1:p.Tyr1150IlefsTer3
XM_011532800.1:c.3448_3451del (MSH6)	XP_011531102.1:p.Tyr1150IlefsTer3
XM_024452819.1:c.3745_3748del (MSH6)	XP_024308587.1:p.Tyr1249IlefsTer3
XM_024452820.1:c.3562_3565del (MSH6)	XP_024308588.1:p.Tyr1188IlefsTer3
XM_024452821.1:c.3448_3451del (MSH6)	XP_024308589.1:p.Tyr1150IlefsTer3
XM_024452822.1:c.2839_2842del (MSH6)	XP_024308590.1:p.Tyr947IlefsTer3
NM_000179.3:c.3745_3748del (MSH6) MANE Select	NP_000170.1:p.Tyr1249IlefsTer3
NM_001281492.2:c.3355_3358del (MSH6)	NP_001268421.1:p.Tyr1119IlefsTer3
NM_001281493.2:c.2839_2842del (MSH6)	NP_001268422.1:p.Tyr947IlefsTer3
NM_001281494.2:c.2839_2842del (MSH6)	NP_001268423.1:p.Tyr947IlefsTer3