Canonical Allele Identifier: CA2499216139

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1048965
• ClinVar RCV Id: RCV001354424
• dbSNP Id: rs2104557860

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806530del , CM000664.2:g.47806530del	GRCh38
NC_000002.11:g.48033669del , CM000664.1:g.48033669del	GRCh37
NC_000002.10:g.47887173del	NCBI36
NG_007111.1:g.28384del , LRG_219:g.28384del
NG_008397.1:g.104147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3583del (MSH6)	ENSP00000406248.2:p.Cys1195ValfsTer?
ENST00000420813.6:c.3583del (MSH6)	ENSP00000390382.2:p.Cys1195ValfsTer?
ENST00000455383.6:c.3583del (MSH6)	ENSP00000397484.2:p.Cys1195ValfsTer?
ENST00000700004.2:c.3496del (MSH6)	ENSP00000514752.2:p.Cys1166ValfsTer?
ENST00000699999.1:n.4554del (MSH6)
ENST00000700000.1:c.2314del (MSH6)	ENSP00000514749.1:p.Cys772ValfsTer?
ENST00000700002.1:c.3886del (MSH6)	ENSP00000514750.1:p.Cys1296ValfsTer?
ENST00000700003.1:c.1335del (MSH6)	ENSP00000514751.1:n.1335del
ENST00000700004.1:c.2653del (MSH6)	ENSP00000514752.1:p.Cys885ValfsTer?
ENST00000700005.1:n.2731del (MSH6)
ENST00000700006.1:n.5038del (MSH6)
ENST00000700007.1:n.2475del (MSH6)
ENST00000700008.1:n.2142del (MSH6)
ENST00000700009.1:n.2544del (MSH6)
ENST00000700010.1:n.1289del (MSH6)
ENST00000700011.1:n.3174del (MSH6)
ENST00000682451.1:n.4219del (FBXO11)
ENST00000684712.1:n.4481del (FBXO11)
ENST00000234420.11:c.3880del (MSH6) MANE Select	ENSP00000234420.5:p.Cys1294ValfsTer?
ENST00000540021.6:c.3490del (MSH6)	ENSP00000446475.1:p.Cys1164ValfsTer?
ENST00000652107.1:c.3583del (MSH6)	ENSP00000498629.1:p.Cys1195ValfsTer?
ENST00000673637.1:c.3583del (MSH6)	ENSP00000501310.1:p.Cys1195ValfsTer?
ENST00000234420.9:c.3880del (MSH6)	ENSP00000234420.4:p.Cys1294ValfsTer?
ENST00000405808.5:c.169+1666del (FBXO11)	ENSP00000385127.1:n.169+1666del
ENST00000434234.5:c.*124+1465del (FBXO11)	ENSP00000402692.1:n.*124+1465del
ENST00000445503.5:c.*3227del (MSH6)	ENSP00000405294.1:n.*3227del
ENST00000538136.1:c.2974del (MSH6)	ENSP00000438580.1:p.Cys992ValfsTer?
ENST00000540021.5:c.3490del (MSH6)	ENSP00000446475.1:p.Cys1164ValfsTer?
ENST00000614496.4:c.2974del (MSH6)	ENSP00000477844.1:p.Cys992ValfsTer?
ENST00000622629.4:c.781del (MSH6)	ENSP00000482078.1:p.Cys261ValfsTer?
NM_000179.2:c.3880del , LRG_219t1:c.3880del (MSH6)	NP_000170.1:p.Cys1294ValfsTer?
NM_001281492.1:c.3490del (MSH6)	NP_001268421.1:p.Cys1164ValfsTer?
NM_001281493.1:c.2974del (MSH6)	NP_001268422.1:p.Cys992ValfsTer?
NM_001281494.1:c.2974del (MSH6)	NP_001268423.1:p.Cys992ValfsTer?
XM_005264271.1:c.3583del (MSH6)	XP_005264328.1:p.Cys1195ValfsTer?
XM_011532798.1:c.3697del (MSH6)	XP_011531100.1:p.Cys1233ValfsTer?
XM_011532799.1:c.3583del (MSH6)	XP_011531101.1:p.Cys1195ValfsTer?
XM_011532800.1:c.3583del (MSH6)	XP_011531102.1:p.Cys1195ValfsTer?
XM_024452819.1:c.3973del (MSH6)	XP_024308587.1:p.Cys1325ValfsTer?
XM_024452820.1:c.3790del (MSH6)	XP_024308588.1:p.Cys1264ValfsTer?
XM_024452821.1:c.3676del (MSH6)	XP_024308589.1:p.Cys1226ValfsTer?
XM_024452822.1:c.3067del (MSH6)	XP_024308590.1:p.Cys1023ValfsTer?
NM_000179.3:c.3880del (MSH6) MANE Select	NP_000170.1:p.Cys1294ValfsTer?
NM_001281492.2:c.3490del (MSH6)	NP_001268421.1:p.Cys1164ValfsTer?
NM_001281493.2:c.2974del (MSH6)	NP_001268422.1:p.Cys992ValfsTer?
NM_001281494.2:c.2974del (MSH6)	NP_001268423.1:p.Cys992ValfsTer?