Canonical Allele Identifier: CA658655770

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479966
• ClinVar RCV Id: RCV000569481 ; RCV003451220
• dbSNP Id: rs1553333682
• MyVariant Identifiers: chr2:g.48033740_48033749del (hg19) ; chr2:g.47806601_47806610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806601_47806610del , CM000664.2:g.47806601_47806610del	GRCh38
NC_000002.11:g.48033740_48033749del , CM000664.1:g.48033740_48033749del	GRCh37
NC_000002.10:g.47887244_47887253del	NCBI36
NG_007111.1:g.28455_28464del , LRG_219:g.28455_28464del
NG_008397.1:g.104068_104077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3654_3663del (MSH6)	ENSP00000406248.2:p.His1218GlnfsTer7
ENST00000420813.6:c.3654_3663del (MSH6)	ENSP00000390382.2:p.His1218GlnfsTer7
ENST00000455383.6:c.3654_3663del (MSH6)	ENSP00000397484.2:p.His1218GlnfsTer7
ENST00000700004.2:c.3567_3576del (MSH6)	ENSP00000514752.2:p.His1189GlnfsTer7
ENST00000699999.1:n.4625_4634del (MSH6)
ENST00000700000.1:c.2385_2394del (MSH6)	ENSP00000514749.1:p.His795GlnfsTer7
ENST00000700002.1:c.3957_3966del (MSH6)	ENSP00000514750.1:p.His1319GlnfsTer7
ENST00000700003.1:c.1406_1415del (MSH6)	ENSP00000514751.1:n.1406_1415del
ENST00000700004.1:c.2724_2733del (MSH6)	ENSP00000514752.1:p.His908GlnfsTer7
ENST00000700005.1:n.2802_2811del (MSH6)
ENST00000700006.1:n.5109_5118del (MSH6)
ENST00000700007.1:n.2546_2555del (MSH6)
ENST00000700008.1:n.2213_2222del (MSH6)
ENST00000700009.1:n.2615_2624del (MSH6)
ENST00000700010.1:n.1360_1369del (MSH6)
ENST00000700011.1:n.3245_3254del (MSH6)
ENST00000682451.1:n.4140_4149del (FBXO11)
ENST00000684712.1:n.4402_4411del (FBXO11)
ENST00000234420.11:c.3951_3960del (MSH6) MANE Select	ENSP00000234420.5:p.His1317GlnfsTer7
ENST00000540021.6:c.3561_3570del (MSH6)	ENSP00000446475.1:p.His1187GlnfsTer7
ENST00000652107.1:c.3654_3663del (MSH6)	ENSP00000498629.1:p.His1218GlnfsTer7
ENST00000673637.1:c.3654_3663del (MSH6)	ENSP00000501310.1:p.His1218GlnfsTer7
ENST00000234420.9:c.3951_3960del (MSH6)	ENSP00000234420.4:p.His1317GlnfsTer7
ENST00000405808.5:c.169+1587_169+1596del (FBXO11)	ENSP00000385127.1:n.169+1587_169+1596del
ENST00000434234.5:c.*124+1386_*124+1395del (FBXO11)	ENSP00000402692.1:n.*124+1386_*124+1395del
ENST00000445503.5:c.*3298_*3307del (MSH6)	ENSP00000405294.1:n.*3298_*3307del
ENST00000538136.1:c.3045_3054del (MSH6)	ENSP00000438580.1:p.His1015GlnfsTer7
ENST00000540021.5:c.3561_3570del (MSH6)	ENSP00000446475.1:p.His1187GlnfsTer7
ENST00000614496.4:c.3045_3054del (MSH6)	ENSP00000477844.1:p.His1015GlnfsTer7
ENST00000622629.4:c.852_861del (MSH6)	ENSP00000482078.1:p.His284GlnfsTer7
NM_000179.2:c.3951_3960del , LRG_219t1:c.3951_3960del (MSH6)	NP_000170.1:p.His1317GlnfsTer7
NM_001281492.1:c.3561_3570del (MSH6)	NP_001268421.1:p.His1187GlnfsTer7
NM_001281493.1:c.3045_3054del (MSH6)	NP_001268422.1:p.His1015GlnfsTer7
NM_001281494.1:c.3045_3054del (MSH6)	NP_001268423.1:p.His1015GlnfsTer7
XM_005264271.1:c.3654_3663del (MSH6)	XP_005264328.1:p.His1218GlnfsTer7
XM_011532798.1:c.3768_3777del (MSH6)	XP_011531100.1:p.His1256GlnfsTer7
XM_011532799.1:c.3654_3663del (MSH6)	XP_011531101.1:p.His1218GlnfsTer7
XM_011532800.1:c.3654_3663del (MSH6)	XP_011531102.1:p.His1218GlnfsTer7
XM_024452819.1:c.4044_4053del (MSH6)	XP_024308587.1:p.His1348GlnfsTer7
XM_024452820.1:c.3861_3870del (MSH6)	XP_024308588.1:p.His1287GlnfsTer7
XM_024452821.1:c.3747_3756del (MSH6)	XP_024308589.1:p.His1249GlnfsTer7
XM_024452822.1:c.3138_3147del (MSH6)	XP_024308590.1:p.His1046GlnfsTer7
NM_000179.3:c.3951_3960del (MSH6) MANE Select	NP_000170.1:p.His1317GlnfsTer7
NM_001281492.2:c.3561_3570del (MSH6)	NP_001268421.1:p.His1187GlnfsTer7
NM_001281493.2:c.3045_3054del (MSH6)	NP_001268422.1:p.His1015GlnfsTer7
NM_001281494.2:c.3045_3054del (MSH6)	NP_001268423.1:p.His1015GlnfsTer7