Canonical Allele Identifier: CA2580067535

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1736740
• ClinVar RCV Id: RCV002375559

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806639_47806641del , CM000664.2:g.47806639_47806641del	GRCh38
NC_000002.11:g.48033778_48033780del , CM000664.1:g.48033778_48033780del	GRCh37
NC_000002.10:g.47887282_47887284del	NCBI36
NG_007111.1:g.28493_28495del , LRG_219:g.28493_28495del
NG_008397.1:g.104037_104039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3692_3694del (MSH6)	ENSP00000406248.2:p.Leu1231del
ENST00000420813.6:c.3692_3694del (MSH6)	ENSP00000390382.2:p.Leu1231del
ENST00000455383.6:c.3692_3694del (MSH6)	ENSP00000397484.2:p.Leu1231del
ENST00000700004.2:c.3605_3607del (MSH6)	ENSP00000514752.2:p.Leu1202del
ENST00000699999.1:n.4663_4665del (MSH6)
ENST00000700000.1:c.2423_2425del (MSH6)	ENSP00000514749.1:p.Leu808del
ENST00000700002.1:c.3995_3997del (MSH6)	ENSP00000514750.1:p.Leu1332del
ENST00000700003.1:c.1444_1446del (MSH6)	ENSP00000514751.1:n.1444_1446del
ENST00000700004.1:c.2762_2764del (MSH6)	ENSP00000514752.1:p.Leu921del
ENST00000700005.1:n.2840_2842del (MSH6)
ENST00000700006.1:n.5147_5149del (MSH6)
ENST00000700007.1:n.2584_2586del (MSH6)
ENST00000700008.1:n.2251_2253del (MSH6)
ENST00000700009.1:n.2653_2655del (MSH6)
ENST00000700010.1:n.1398_1400del (MSH6)
ENST00000700011.1:n.3283_3285del (MSH6)
ENST00000682451.1:n.4109_4111del (FBXO11)
ENST00000684712.1:n.4371_4373del (FBXO11)
ENST00000234420.11:c.3989_3991del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1330del
ENST00000540021.6:c.3599_3601del (MSH6)	ENSP00000446475.1:p.Leu1200del
ENST00000652107.1:c.3692_3694del (MSH6)	ENSP00000498629.1:p.Leu1231del
ENST00000673637.1:c.3692_3694del (MSH6)	ENSP00000501310.1:p.Leu1231del
ENST00000234420.9:c.3989_3991del (MSH6)	ENSP00000234420.4:p.Leu1330del
ENST00000405808.5:c.169+1556_169+1558del (FBXO11)	ENSP00000385127.1:n.169+1556_169+1558del
ENST00000434234.5:c.*124+1355_*124+1357del (FBXO11)	ENSP00000402692.1:n.*124+1355_*124+1357de...
ENST00000445503.5:c.*3336_*3338del (MSH6)	ENSP00000405294.1:n.*3336_*3338del
ENST00000538136.1:c.3083_3085del (MSH6)	ENSP00000438580.1:p.Leu1028del
ENST00000540021.5:c.3599_3601del (MSH6)	ENSP00000446475.1:p.Leu1200del
ENST00000614496.4:c.3083_3085del (MSH6)	ENSP00000477844.1:p.Leu1028del
ENST00000622629.4:c.890_892del (MSH6)	ENSP00000482078.1:p.Leu297del
NM_000179.2:c.3989_3991del , LRG_219t1:c.3989_3991del (MSH6)	NP_000170.1:p.Leu1330del
NM_001281492.1:c.3599_3601del (MSH6)	NP_001268421.1:p.Leu1200del
NM_001281493.1:c.3083_3085del (MSH6)	NP_001268422.1:p.Leu1028del
NM_001281494.1:c.3083_3085del (MSH6)	NP_001268423.1:p.Leu1028del
XM_005264271.1:c.3692_3694del (MSH6)	XP_005264328.1:p.Leu1231del
XM_011532798.1:c.3806_3808del (MSH6)	XP_011531100.1:p.Leu1269del
XM_011532799.1:c.3692_3694del (MSH6)	XP_011531101.1:p.Leu1231del
XM_011532800.1:c.3692_3694del (MSH6)	XP_011531102.1:p.Leu1231del
XM_024452819.1:c.4082_4084del (MSH6)	XP_024308587.1:p.Leu1361del
XM_024452820.1:c.3899_3901del (MSH6)	XP_024308588.1:p.Leu1300del
XM_024452821.1:c.3785_3787del (MSH6)	XP_024308589.1:p.Leu1262del
XM_024452822.1:c.3176_3178del (MSH6)	XP_024308590.1:p.Leu1059del
NM_000179.3:c.3989_3991del (MSH6) MANE Select	NP_000170.1:p.Leu1330del
NM_001281492.2:c.3599_3601del (MSH6)	NP_001268421.1:p.Leu1200del
NM_001281493.2:c.3083_3085del (MSH6)	NP_001268422.1:p.Leu1028del
NM_001281494.2:c.3083_3085del (MSH6)	NP_001268423.1:p.Leu1028del