Canonical Allele Identifier: CA013527

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89425
• ClinVar RCV Id: RCV000074893 ; RCV002267831 ; RCV002514332 ; RCV003450975 ; RCV004537279
• dbSNP Id: rs587779274
• MyVariant Identifiers: chr2:g.48032809_48032812del (hg19) ; chr2:g.47805670_47805673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805670_47805673del , CM000664.2:g.47805670_47805673del	GRCh38
NC_000002.11:g.48032809_48032812del , CM000664.1:g.48032809_48032812del	GRCh37
NC_000002.10:g.47886313_47886316del	NCBI36
NG_007111.1:g.27524_27527del , LRG_219:g.27524_27527del
NG_008397.1:g.105009_105012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3312_3315del (MSH6)	ENSP00000406248.2:p.His1104GlnfsTer12
ENST00000420813.6:c.3312_3315del (MSH6)	ENSP00000390382.2:p.His1104GlnfsTer12
ENST00000455383.6:c.3312_3315del (MSH6)	ENSP00000397484.2:p.His1104GlnfsTer12
ENST00000700004.2:c.3225_3228del (MSH6)	ENSP00000514752.2:p.His1075GlnfsTer12
ENST00000699999.1:n.4283_4286del (MSH6)
ENST00000700000.1:c.2043_2046del (MSH6)	ENSP00000514749.1:p.His681GlnfsTer12
ENST00000700002.1:c.3615_3618del (MSH6)	ENSP00000514750.1:p.His1205GlnfsTer12
ENST00000700003.1:c.1064_1067del (MSH6)	ENSP00000514751.1:n.1064_1067del
ENST00000700004.1:c.2382_2385del (MSH6)	ENSP00000514752.1:p.His794GlnfsTer12
ENST00000700005.1:n.2460_2463del (MSH6)
ENST00000700006.1:n.4271_4274del (MSH6)
ENST00000700007.1:n.2204_2207del (MSH6)
ENST00000700008.1:n.1778_1781del (MSH6)
ENST00000700009.1:n.1777_1780del (MSH6)
ENST00000700010.1:n.1018_1021del (MSH6)
ENST00000700011.1:n.2903_2906del (MSH6)
ENST00000234420.11:c.3609_3612del (MSH6) MANE Select	ENSP00000234420.5:p.His1203GlnfsTer12
ENST00000540021.6:c.3219_3222del (MSH6)	ENSP00000446475.1:p.His1073GlnfsTer12
ENST00000652107.1:c.3312_3315del (MSH6)	ENSP00000498629.1:p.His1104GlnfsTer12
ENST00000673637.1:c.3312_3315del (MSH6)	ENSP00000501310.1:p.His1104GlnfsTer12
ENST00000234420.9:c.3609_3612del (MSH6)	ENSP00000234420.4:p.His1203GlnfsTer12
ENST00000405808.5:c.169+2528_169+2531del (FBXO11)	ENSP00000385127.1:n.169+2528_169+2531del
ENST00000434234.5:c.*124+2327_*124+2330del (FBXO11)	ENSP00000402692.1:n.*124+2327_*124+2330del
ENST00000445503.5:c.*2956_*2959del (MSH6)	ENSP00000405294.1:n.*2956_*2959del
ENST00000538136.1:c.2703_2706del (MSH6)	ENSP00000438580.1:p.His901GlnfsTer12
ENST00000540021.5:c.3219_3222del (MSH6)	ENSP00000446475.1:p.His1073GlnfsTer12
ENST00000614496.4:c.2703_2706del (MSH6)	ENSP00000477844.1:p.His901GlnfsTer12
ENST00000622629.4:c.513_516del (MSH6)	ENSP00000482078.1:p.His171GlnfsTer12
NM_000179.2:c.3609_3612del , LRG_219t1:c.3609_3612del (MSH6)	NP_000170.1:p.His1203GlnfsTer12
NM_001281492.1:c.3219_3222del (MSH6)	NP_001268421.1:p.His1073GlnfsTer12
NM_001281493.1:c.2703_2706del (MSH6)	NP_001268422.1:p.His901GlnfsTer12
NM_001281494.1:c.2703_2706del (MSH6)	NP_001268423.1:p.His901GlnfsTer12
XM_005264271.1:c.3312_3315del (MSH6)	XP_005264328.1:p.His1104GlnfsTer12
XM_011532798.1:c.3426_3429del (MSH6)	XP_011531100.1:p.His1142GlnfsTer12
XM_011532799.1:c.3312_3315del (MSH6)	XP_011531101.1:p.His1104GlnfsTer12
XM_011532800.1:c.3312_3315del (MSH6)	XP_011531102.1:p.His1104GlnfsTer12
XM_024452819.1:c.3609_3612del (MSH6)	XP_024308587.1:p.His1203GlnfsTer12
XM_024452820.1:c.3426_3429del (MSH6)	XP_024308588.1:p.His1142GlnfsTer12
XM_024452821.1:c.3312_3315del (MSH6)	XP_024308589.1:p.His1104GlnfsTer12
XM_024452822.1:c.2703_2706del (MSH6)	XP_024308590.1:p.His901GlnfsTer12
NM_000179.3:c.3609_3612del (MSH6) MANE Select	NP_000170.1:p.His1203GlnfsTer12
NM_001281492.2:c.3219_3222del (MSH6)	NP_001268421.1:p.His1073GlnfsTer12
NM_001281493.2:c.2703_2706del (MSH6)	NP_001268422.1:p.His901GlnfsTer12
NM_001281494.2:c.2703_2706del (MSH6)	NP_001268423.1:p.His901GlnfsTer12