Canonical Allele Identifier: CA1139656966

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 918580
• ClinVar RCV Id: RCV001176241
• dbSNP Id: rs1669958074

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805628_47805629del , CM000664.2:g.47805628_47805629del	GRCh38
NC_000002.11:g.48032767_48032768del , CM000664.1:g.48032767_48032768del	GRCh37
NC_000002.10:g.47886271_47886272del	NCBI36
NG_007111.1:g.27482_27483del , LRG_219:g.27482_27483del
NG_008397.1:g.105047_105048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3270_3271del (MSH6)	ENSP00000406248.2:p.Phe1092CysfsTer2
ENST00000420813.6:c.3270_3271del (MSH6)	ENSP00000390382.2:p.Phe1092CysfsTer2
ENST00000455383.6:c.3270_3271del (MSH6)	ENSP00000397484.2:p.Phe1092CysfsTer2
ENST00000700004.2:c.3183_3184del (MSH6)	ENSP00000514752.2:p.Phe1063CysfsTer2
ENST00000699999.1:n.4241_4242del (MSH6)
ENST00000700000.1:c.2001_2002del (MSH6)	ENSP00000514749.1:p.Phe669CysfsTer2
ENST00000700002.1:c.3573_3574del (MSH6)	ENSP00000514750.1:p.Phe1193CysfsTer2
ENST00000700003.1:c.1022_1023del (MSH6)	ENSP00000514751.1:n.1022_1023del
ENST00000700004.1:c.2340_2341del (MSH6)	ENSP00000514752.1:p.Phe782CysfsTer2
ENST00000700005.1:n.2418_2419del (MSH6)
ENST00000700006.1:n.4229_4230del (MSH6)
ENST00000700007.1:n.2162_2163del (MSH6)
ENST00000700008.1:n.1736_1737del (MSH6)
ENST00000700009.1:n.1735_1736del (MSH6)
ENST00000700010.1:n.976_977del (MSH6)
ENST00000700011.1:n.2861_2862del (MSH6)
ENST00000234420.11:c.3567_3568del (MSH6) MANE Select	ENSP00000234420.5:p.Phe1191CysfsTer2
ENST00000540021.6:c.3177_3178del (MSH6)	ENSP00000446475.1:p.Phe1061CysfsTer2
ENST00000652107.1:c.3270_3271del (MSH6)	ENSP00000498629.1:p.Phe1092CysfsTer2
ENST00000673637.1:c.3270_3271del (MSH6)	ENSP00000501310.1:p.Phe1092CysfsTer2
ENST00000234420.9:c.3567_3568del (MSH6)	ENSP00000234420.4:p.Phe1191CysfsTer2
ENST00000405808.5:c.169+2566_169+2567del (FBXO11)	ENSP00000385127.1:n.169+2566_169+2567del
ENST00000434234.5:c.*124+2365_*124+2366del (FBXO11)	ENSP00000402692.1:n.*124+2365_*124+2366del
ENST00000445503.5:c.*2914_*2915del (MSH6)	ENSP00000405294.1:n.*2914_*2915del
ENST00000538136.1:c.2661_2662del (MSH6)	ENSP00000438580.1:p.Phe889CysfsTer2
ENST00000540021.5:c.3177_3178del (MSH6)	ENSP00000446475.1:p.Phe1061CysfsTer2
ENST00000614496.4:c.2661_2662del (MSH6)	ENSP00000477844.1:p.Phe889CysfsTer2
ENST00000622629.4:c.471_472del (MSH6)	ENSP00000482078.1:p.Phe159CysfsTer2
NM_000179.2:c.3567_3568del , LRG_219t1:c.3567_3568del (MSH6)	NP_000170.1:p.Phe1191CysfsTer2
NM_001281492.1:c.3177_3178del (MSH6)	NP_001268421.1:p.Phe1061CysfsTer2
NM_001281493.1:c.2661_2662del (MSH6)	NP_001268422.1:p.Phe889CysfsTer2
NM_001281494.1:c.2661_2662del (MSH6)	NP_001268423.1:p.Phe889CysfsTer2
XM_005264271.1:c.3270_3271del (MSH6)	XP_005264328.1:p.Phe1092CysfsTer2
XM_011532798.1:c.3384_3385del (MSH6)	XP_011531100.1:p.Phe1130CysfsTer2
XM_011532799.1:c.3270_3271del (MSH6)	XP_011531101.1:p.Phe1092CysfsTer2
XM_011532800.1:c.3270_3271del (MSH6)	XP_011531102.1:p.Phe1092CysfsTer2
XM_024452819.1:c.3567_3568del (MSH6)	XP_024308587.1:p.Phe1191CysfsTer2
XM_024452820.1:c.3384_3385del (MSH6)	XP_024308588.1:p.Phe1130CysfsTer2
XM_024452821.1:c.3270_3271del (MSH6)	XP_024308589.1:p.Phe1092CysfsTer2
XM_024452822.1:c.2661_2662del (MSH6)	XP_024308590.1:p.Phe889CysfsTer2
NM_000179.3:c.3567_3568del (MSH6) MANE Select	NP_000170.1:p.Phe1191CysfsTer2
NM_001281492.2:c.3177_3178del (MSH6)	NP_001268421.1:p.Phe1061CysfsTer2
NM_001281493.2:c.2661_2662del (MSH6)	NP_001268422.1:p.Phe889CysfsTer2
NM_001281494.2:c.2661_2662del (MSH6)	NP_001268423.1:p.Phe889CysfsTer2