Canonical Allele Identifier: CA658655686

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455242
• ClinVar RCV Id: RCV000530723 ; RCV003449506
• dbSNP Id: rs1553331337
• MyVariant Identifiers: chr2:g.48030624del (hg19) ; chr2:g.47803485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803485del , CM000664.2:g.47803485del	GRCh38
NC_000002.11:g.48030624del , CM000664.1:g.48030624del	GRCh37
NC_000002.10:g.47884128del	NCBI36
NG_007111.1:g.25339del , LRG_219:g.25339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2941del (MSH6)	ENSP00000406248.2:p.Leu981CysfsTer10
ENST00000420813.6:c.2941del (MSH6)	ENSP00000390382.2:p.Leu981CysfsTer10
ENST00000455383.6:c.2941del (MSH6)	ENSP00000397484.2:p.Leu981CysfsTer10
ENST00000700004.2:c.3173-2133del (MSH6)	ENSP00000514752.2:n.3173-2133del
ENST00000699999.1:n.3322del (MSH6)
ENST00000700000.1:c.1672del (MSH6)	ENSP00000514749.1:p.Leu558CysfsTer10
ENST00000700002.1:c.3244del (MSH6)	ENSP00000514750.1:p.Leu1082CysfsTer10
ENST00000700003.1:c.693del (MSH6)	ENSP00000514751.1:n.693del
ENST00000700004.1:c.2330-2133del (MSH6)	ENSP00000514752.1:n.2330-2133del
ENST00000700005.1:n.2089del (MSH6)
ENST00000700006.1:n.2086del (MSH6)
ENST00000700007.1:n.1243del (MSH6)
ENST00000700008.1:n.817del (MSH6)
ENST00000700009.1:n.816del (MSH6)
ENST00000700010.1:n.647del (MSH6)
ENST00000700011.1:n.718del (MSH6)
ENST00000234420.11:c.3238del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1080CysfsTer10
ENST00000540021.6:c.2848del (MSH6)	ENSP00000446475.1:p.Leu950CysfsTer10
ENST00000652107.1:c.2941del (MSH6)	ENSP00000498629.1:p.Leu981CysfsTer10
ENST00000673637.1:c.2941del (MSH6)	ENSP00000501310.1:p.Leu981CysfsTer10
ENST00000234420.9:c.3238del (MSH6)	ENSP00000234420.4:p.Leu1080CysfsTer10
ENST00000405808.5:c.169+4710del (FBXO11)	ENSP00000385127.1:n.169+4710del
ENST00000434234.5:c.*124+4509del (FBXO11)	ENSP00000402692.1:n.*124+4509del
ENST00000445503.5:c.*2585del (MSH6)	ENSP00000405294.1:n.*2585del
ENST00000538136.1:c.2332del (MSH6)	ENSP00000438580.1:p.Leu778CysfsTer10
ENST00000540021.5:c.2848del (MSH6)	ENSP00000446475.1:p.Leu950CysfsTer10
ENST00000614496.4:c.2332del (MSH6)	ENSP00000477844.1:p.Leu778CysfsTer10
ENST00000622629.4:c.142del (MSH6)	ENSP00000482078.1:p.Leu48CysfsTer10
NM_000179.2:c.3238del , LRG_219t1:c.3238del (MSH6)	NP_000170.1:p.Leu1080CysfsTer10
NM_001281492.1:c.2848del (MSH6)	NP_001268421.1:p.Leu950CysfsTer10
NM_001281493.1:c.2332del (MSH6)	NP_001268422.1:p.Leu778CysfsTer10
NM_001281494.1:c.2332del (MSH6)	NP_001268423.1:p.Leu778CysfsTer10
XM_005264271.1:c.2941del (MSH6)	XP_005264328.1:p.Leu981CysfsTer10
XM_011532798.1:c.3055del (MSH6)	XP_011531100.1:p.Leu1019CysfsTer10
XM_011532799.1:c.2941del (MSH6)	XP_011531101.1:p.Leu981CysfsTer10
XM_011532800.1:c.2941del (MSH6)	XP_011531102.1:p.Leu981CysfsTer10
XM_024452819.1:c.3238del (MSH6)	XP_024308587.1:p.Leu1080CysfsTer10
XM_024452820.1:c.3055del (MSH6)	XP_024308588.1:p.Leu1019CysfsTer10
XM_024452821.1:c.2941del (MSH6)	XP_024308589.1:p.Leu981CysfsTer10
XM_024452822.1:c.2332del (MSH6)	XP_024308590.1:p.Leu778CysfsTer10
NM_000179.3:c.3238del (MSH6) MANE Select	NP_000170.1:p.Leu1080CysfsTer10
NM_001281492.2:c.2848del (MSH6)	NP_001268421.1:p.Leu950CysfsTer10
NM_001281493.2:c.2332del (MSH6)	NP_001268422.1:p.Leu778CysfsTer10
NM_001281494.2:c.2332del (MSH6)	NP_001268423.1:p.Leu778CysfsTer10