Canonical Allele Identifier: CA2695200523

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673715
• ClinVar RCV Id: RCV003450352

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806599_47806600del , CM000664.2:g.47806599_47806600del	GRCh38
NC_000002.11:g.48033738_48033739del , CM000664.1:g.48033738_48033739del	GRCh37
NC_000002.10:g.47887242_47887243del	NCBI36
NG_007111.1:g.28453_28454del , LRG_219:g.28453_28454del
NG_008397.1:g.104077_104078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3652_3653del (MSH6)	ENSP00000406248.2:p.His1218Ter
ENST00000420813.6:c.3652_3653del (MSH6)	ENSP00000390382.2:p.His1218Ter
ENST00000455383.6:c.3652_3653del (MSH6)	ENSP00000397484.2:p.His1218Ter
ENST00000700004.2:c.3565_3566del (MSH6)	ENSP00000514752.2:p.His1189Ter
ENST00000699999.1:n.4623_4624del (MSH6)
ENST00000700000.1:c.2383_2384del (MSH6)	ENSP00000514749.1:p.His795Ter
ENST00000700002.1:c.3955_3956del (MSH6)	ENSP00000514750.1:p.His1319Ter
ENST00000700003.1:c.1404_1405del (MSH6)	ENSP00000514751.1:n.1404_1405del
ENST00000700004.1:c.2722_2723del (MSH6)	ENSP00000514752.1:p.His908Ter
ENST00000700005.1:n.2800_2801del (MSH6)
ENST00000700006.1:n.5107_5108del (MSH6)
ENST00000700007.1:n.2544_2545del (MSH6)
ENST00000700008.1:n.2211_2212del (MSH6)
ENST00000700009.1:n.2613_2614del (MSH6)
ENST00000700010.1:n.1358_1359del (MSH6)
ENST00000700011.1:n.3243_3244del (MSH6)
ENST00000682451.1:n.4149_4150del (FBXO11)
ENST00000684712.1:n.4411_4412del (FBXO11)
ENST00000234420.11:c.3949_3950del (MSH6) MANE Select	ENSP00000234420.5:p.His1317Ter
ENST00000540021.6:c.3559_3560del (MSH6)	ENSP00000446475.1:p.His1187Ter
ENST00000652107.1:c.3652_3653del (MSH6)	ENSP00000498629.1:p.His1218Ter
ENST00000673637.1:c.3652_3653del (MSH6)	ENSP00000501310.1:p.His1218Ter
ENST00000234420.9:c.3949_3950del (MSH6)	ENSP00000234420.4:p.His1317Ter
ENST00000405808.5:c.169+1596_169+1597del (FBXO11)	ENSP00000385127.1:n.169+1596_169+1597del
ENST00000434234.5:c.*124+1395_*124+1396del (FBXO11)	ENSP00000402692.1:n.*124+1395_*124+1396del
ENST00000445503.5:c.*3296_*3297del (MSH6)	ENSP00000405294.1:n.*3296_*3297del
ENST00000538136.1:c.3043_3044del (MSH6)	ENSP00000438580.1:p.His1015Ter
ENST00000540021.5:c.3559_3560del (MSH6)	ENSP00000446475.1:p.His1187Ter
ENST00000614496.4:c.3043_3044del (MSH6)	ENSP00000477844.1:p.His1015Ter
ENST00000622629.4:c.850_851del (MSH6)	ENSP00000482078.1:p.His284Ter
NM_000179.2:c.3949_3950del , LRG_219t1:c.3949_3950del (MSH6)	NP_000170.1:p.His1317Ter
NM_001281492.1:c.3559_3560del (MSH6)	NP_001268421.1:p.His1187Ter
NM_001281493.1:c.3043_3044del (MSH6)	NP_001268422.1:p.His1015Ter
NM_001281494.1:c.3043_3044del (MSH6)	NP_001268423.1:p.His1015Ter
XM_005264271.1:c.3652_3653del (MSH6)	XP_005264328.1:p.His1218Ter
XM_011532798.1:c.3766_3767del (MSH6)	XP_011531100.1:p.His1256Ter
XM_011532799.1:c.3652_3653del (MSH6)	XP_011531101.1:p.His1218Ter
XM_011532800.1:c.3652_3653del (MSH6)	XP_011531102.1:p.His1218Ter
XM_024452819.1:c.4042_4043del (MSH6)	XP_024308587.1:p.His1348Ter
XM_024452820.1:c.3859_3860del (MSH6)	XP_024308588.1:p.His1287Ter
XM_024452821.1:c.3745_3746del (MSH6)	XP_024308589.1:p.His1249Ter
XM_024452822.1:c.3136_3137del (MSH6)	XP_024308590.1:p.His1046Ter
NM_000179.3:c.3949_3950del (MSH6) MANE Select	NP_000170.1:p.His1317Ter
NM_001281492.2:c.3559_3560del (MSH6)	NP_001268421.1:p.His1187Ter
NM_001281493.2:c.3043_3044del (MSH6)	NP_001268422.1:p.His1015Ter
NM_001281494.2:c.3043_3044del (MSH6)	NP_001268423.1:p.His1015Ter