Canonical Allele Identifier: CA013169

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89403
• ClinVar RCV Id: RCV000074871 ; RCV000162609 ; RCV000221153 ; RCV000630154 ; RCV002288563 ; RCV003460685
• dbSNP Id: rs63750194
• MyVariant Identifiers: chr2:g.48032123_48032124del (hg19) ; chr2:g.47804984_47804985del (hg38)
• PubMed: PMID:14974087 ; PMID:18301448 ; PMID:20007843 ; PMID:24323032 ; PMID:25142776

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804984_47804985del , CM000664.2:g.47804984_47804985del	GRCh38
NC_000002.11:g.48032123_48032124del , CM000664.1:g.48032123_48032124del	GRCh37
NC_000002.10:g.47885627_47885628del	NCBI36
NG_007111.1:g.26838_26839del , LRG_219:g.26838_26839del
NG_008397.1:g.105692_105693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3216_3217del (MSH6)	ENSP00000406248.2:p.Asp1072GlufsTer5
ENST00000420813.6:c.3216_3217del (MSH6)	ENSP00000390382.2:p.Asp1072GlufsTer5
ENST00000455383.6:c.3216_3217del (MSH6)	ENSP00000397484.2:p.Asp1072GlufsTer5
ENST00000700004.2:c.3173-634_3173-633del (MSH6)	ENSP00000514752.2:n.3173-634_3173-633del
ENST00000699999.1:n.3597_3598del (MSH6)
ENST00000700000.1:c.1947_1948del (MSH6)	ENSP00000514749.1:p.Asp649GlufsTer5
ENST00000700002.1:c.3519_3520del (MSH6)	ENSP00000514750.1:p.Asp1173GlufsTer5
ENST00000700003.1:c.968_969del (MSH6)	ENSP00000514751.1:n.968_969del
ENST00000700004.1:c.2330-634_2330-633del (MSH6)	ENSP00000514752.1:n.2330-634_2330-633del
ENST00000700005.1:n.2364_2365del (MSH6)
ENST00000700006.1:n.3585_3586del (MSH6)
ENST00000700007.1:n.1518_1519del (MSH6)
ENST00000700008.1:n.1092_1093del (MSH6)
ENST00000700009.1:n.1091_1092del (MSH6)
ENST00000700010.1:n.922_923del (MSH6)
ENST00000700011.1:n.2217_2218del (MSH6)
ENST00000234420.11:c.3513_3514del (MSH6) MANE Select	ENSP00000234420.5:p.Asp1171GlufsTer5
ENST00000540021.6:c.3123_3124del (MSH6)	ENSP00000446475.1:p.Asp1041GlufsTer5
ENST00000652107.1:c.3216_3217del (MSH6)	ENSP00000498629.1:p.Asp1072GlufsTer5
ENST00000673637.1:c.3216_3217del (MSH6)	ENSP00000501310.1:p.Asp1072GlufsTer5
ENST00000234420.9:c.3513_3514del (MSH6)	ENSP00000234420.4:p.Asp1171GlufsTer5
ENST00000405808.5:c.169+3211_169+3212del (FBXO11)	ENSP00000385127.1:n.169+3211_169+3212del
ENST00000434234.5:c.*124+3010_*124+3011del (FBXO11)	ENSP00000402692.1:n.*124+3010_*124+3011del
ENST00000445503.5:c.*2860_*2861del (MSH6)	ENSP00000405294.1:n.*2860_*2861del
ENST00000538136.1:c.2607_2608del (MSH6)	ENSP00000438580.1:p.Asp869GlufsTer5
ENST00000540021.5:c.3123_3124del (MSH6)	ENSP00000446475.1:p.Asp1041GlufsTer5
ENST00000614496.4:c.2607_2608del (MSH6)	ENSP00000477844.1:p.Asp869GlufsTer5
ENST00000622629.4:c.417_418del (MSH6)	ENSP00000482078.1:p.Asp139GlufsTer5
NM_000179.2:c.3513_3514del , LRG_219t1:c.3513_3514del (MSH6)	NP_000170.1:p.Asp1171GlufsTer5
NM_001281492.1:c.3123_3124del (MSH6)	NP_001268421.1:p.Asp1041GlufsTer5
NM_001281493.1:c.2607_2608del (MSH6)	NP_001268422.1:p.Asp869GlufsTer5
NM_001281494.1:c.2607_2608del (MSH6)	NP_001268423.1:p.Asp869GlufsTer5
XM_005264271.1:c.3216_3217del (MSH6)	XP_005264328.1:p.Asp1072GlufsTer5
XM_011532798.1:c.3330_3331del (MSH6)	XP_011531100.1:p.Asp1110GlufsTer5
XM_011532799.1:c.3216_3217del (MSH6)	XP_011531101.1:p.Asp1072GlufsTer5
XM_011532800.1:c.3216_3217del (MSH6)	XP_011531102.1:p.Asp1072GlufsTer5
XM_024452819.1:c.3513_3514del (MSH6)	XP_024308587.1:p.Asp1171GlufsTer5
XM_024452820.1:c.3330_3331del (MSH6)	XP_024308588.1:p.Asp1110GlufsTer5
XM_024452821.1:c.3216_3217del (MSH6)	XP_024308589.1:p.Asp1072GlufsTer5
XM_024452822.1:c.2607_2608del (MSH6)	XP_024308590.1:p.Asp869GlufsTer5
NM_000179.3:c.3513_3514del (MSH6) MANE Select	NP_000170.1:p.Asp1171GlufsTer5
NM_001281492.2:c.3123_3124del (MSH6)	NP_001268421.1:p.Asp1041GlufsTer5
NM_001281493.2:c.2607_2608del (MSH6)	NP_001268422.1:p.Asp869GlufsTer5
NM_001281494.2:c.2607_2608del (MSH6)	NP_001268423.1:p.Asp869GlufsTer5