Canonical Allele Identifier: CA2573134759

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1458831
• ClinVar RCV Id: RCV001975074
• dbSNP Id: rs2104537929

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806229del , CM000664.2:g.47806229del	GRCh38
NC_000002.11:g.48033368del , CM000664.1:g.48033368del	GRCh37
NC_000002.10:g.47886872del	NCBI36
NG_007111.1:g.28083del , LRG_219:g.28083del
NG_008397.1:g.104449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3375del (MSH6)	ENSP00000406248.2:p.Thr1126ArgfsTer3
ENST00000420813.6:c.3375del (MSH6)	ENSP00000390382.2:p.Thr1126ArgfsTer3
ENST00000455383.6:c.3375del (MSH6)	ENSP00000397484.2:p.Thr1126ArgfsTer3
ENST00000700004.2:c.3288del (MSH6)	ENSP00000514752.2:p.Thr1097ArgfsTer3
ENST00000699999.1:n.4346del (MSH6)
ENST00000700000.1:c.2106del (MSH6)	ENSP00000514749.1:p.Thr703ArgfsTer3
ENST00000700002.1:c.3678del (MSH6)	ENSP00000514750.1:p.Thr1227ArgfsTer3
ENST00000700003.1:c.1127del (MSH6)	ENSP00000514751.1:n.1127del
ENST00000700004.1:c.2445del (MSH6)	ENSP00000514752.1:p.Thr816ArgfsTer3
ENST00000700005.1:n.2523del (MSH6)
ENST00000700006.1:n.4830del (MSH6)
ENST00000700007.1:n.2267del (MSH6)
ENST00000700008.1:n.1841del (MSH6)
ENST00000700009.1:n.2336del (MSH6)
ENST00000700010.1:n.1081del (MSH6)
ENST00000700011.1:n.2966del (MSH6)
ENST00000682451.1:n.4521del (FBXO11)
ENST00000684712.1:n.4783del (FBXO11)
ENST00000234420.11:c.3672del (MSH6) MANE Select	ENSP00000234420.5:p.Thr1225ArgfsTer3
ENST00000540021.6:c.3282del (MSH6)	ENSP00000446475.1:p.Thr1095ArgfsTer3
ENST00000652107.1:c.3375del (MSH6)	ENSP00000498629.1:p.Thr1126ArgfsTer3
ENST00000673637.1:c.3375del (MSH6)	ENSP00000501310.1:p.Thr1126ArgfsTer3
ENST00000234420.9:c.3672del (MSH6)	ENSP00000234420.4:p.Thr1225ArgfsTer3
ENST00000405808.5:c.169+1968del (FBXO11)	ENSP00000385127.1:n.169+1968del
ENST00000434234.5:c.*124+1767del (FBXO11)	ENSP00000402692.1:n.*124+1767del
ENST00000445503.5:c.*3019del (MSH6)	ENSP00000405294.1:n.*3019del
ENST00000538136.1:c.2766del (MSH6)	ENSP00000438580.1:p.Thr923ArgfsTer3
ENST00000540021.5:c.3282del (MSH6)	ENSP00000446475.1:p.Thr1095ArgfsTer3
ENST00000614496.4:c.2766del (MSH6)	ENSP00000477844.1:p.Thr923ArgfsTer3
ENST00000622629.4:c.576del (MSH6)	ENSP00000482078.1:p.Thr193ArgfsTer3
NM_000179.2:c.3672del , LRG_219t1:c.3672del (MSH6)	NP_000170.1:p.Thr1225ArgfsTer3
NM_001281492.1:c.3282del (MSH6)	NP_001268421.1:p.Thr1095ArgfsTer3
NM_001281493.1:c.2766del (MSH6)	NP_001268422.1:p.Thr923ArgfsTer3
NM_001281494.1:c.2766del (MSH6)	NP_001268423.1:p.Thr923ArgfsTer3
XM_005264271.1:c.3375del (MSH6)	XP_005264328.1:p.Thr1126ArgfsTer3
XM_011532798.1:c.3489del (MSH6)	XP_011531100.1:p.Thr1164ArgfsTer3
XM_011532799.1:c.3375del (MSH6)	XP_011531101.1:p.Thr1126ArgfsTer3
XM_011532800.1:c.3375del (MSH6)	XP_011531102.1:p.Thr1126ArgfsTer3
XM_024452819.1:c.3672del (MSH6)	XP_024308587.1:p.Thr1225ArgfsTer3
XM_024452820.1:c.3489del (MSH6)	XP_024308588.1:p.Thr1164ArgfsTer3
XM_024452821.1:c.3375del (MSH6)	XP_024308589.1:p.Thr1126ArgfsTer3
XM_024452822.1:c.2766del (MSH6)	XP_024308590.1:p.Thr923ArgfsTer3
NM_000179.3:c.3672del (MSH6) MANE Select	NP_000170.1:p.Thr1225ArgfsTer3
NM_001281492.2:c.3282del (MSH6)	NP_001268421.1:p.Thr1095ArgfsTer3
NM_001281493.2:c.2766del (MSH6)	NP_001268422.1:p.Thr923ArgfsTer3
NM_001281494.2:c.2766del (MSH6)	NP_001268423.1:p.Thr923ArgfsTer3