Canonical Allele Identifier: CA013835

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 182682
• ClinVar RCV Id: RCV000160745 ; RCV000205295 ; RCV001390759 ; RCV003467256
• dbSNP Id: rs730881829
• MyVariant Identifiers: chr2:g.48033386del (hg19) ; chr2:g.47806247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806247del , CM000664.2:g.47806247del	GRCh38
NC_000002.11:g.48033386del , CM000664.1:g.48033386del	GRCh37
NC_000002.10:g.47886890del	NCBI36
NG_007111.1:g.28101del , LRG_219:g.28101del
NG_008397.1:g.104429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3393del (MSH6)	ENSP00000406248.2:p.Val1132LeufsTer9
ENST00000420813.6:c.3393del (MSH6)	ENSP00000390382.2:p.Val1132LeufsTer9
ENST00000455383.6:c.3393del (MSH6)	ENSP00000397484.2:p.Val1132LeufsTer9
ENST00000700004.2:c.3306del (MSH6)	ENSP00000514752.2:p.Val1103LeufsTer9
ENST00000699999.1:n.4364del (MSH6)
ENST00000700000.1:c.2124del (MSH6)	ENSP00000514749.1:p.Val709LeufsTer9
ENST00000700002.1:c.3696del (MSH6)	ENSP00000514750.1:p.Val1233LeufsTer9
ENST00000700003.1:c.1145del (MSH6)	ENSP00000514751.1:n.1145del
ENST00000700004.1:c.2463del (MSH6)	ENSP00000514752.1:p.Val822LeufsTer9
ENST00000700005.1:n.2541del (MSH6)
ENST00000700006.1:n.4848del (MSH6)
ENST00000700007.1:n.2285del (MSH6)
ENST00000700008.1:n.1859del (MSH6)
ENST00000700009.1:n.2354del (MSH6)
ENST00000700010.1:n.1099del (MSH6)
ENST00000700011.1:n.2984del (MSH6)
ENST00000682451.1:n.4501del (FBXO11)
ENST00000684712.1:n.4763del (FBXO11)
ENST00000234420.11:c.3690del (MSH6) MANE Select	ENSP00000234420.5:p.Val1231LeufsTer9
ENST00000540021.6:c.3300del (MSH6)	ENSP00000446475.1:p.Val1101LeufsTer9
ENST00000652107.1:c.3393del (MSH6)	ENSP00000498629.1:p.Val1132LeufsTer9
ENST00000673637.1:c.3393del (MSH6)	ENSP00000501310.1:p.Val1132LeufsTer9
ENST00000234420.9:c.3690del (MSH6)	ENSP00000234420.4:p.Val1231LeufsTer9
ENST00000405808.5:c.169+1948del (FBXO11)	ENSP00000385127.1:n.169+1948del
ENST00000434234.5:c.*124+1747del (FBXO11)	ENSP00000402692.1:n.*124+1747del
ENST00000445503.5:c.*3037del (MSH6)	ENSP00000405294.1:n.*3037del
ENST00000538136.1:c.2784del (MSH6)	ENSP00000438580.1:p.Val929LeufsTer9
ENST00000540021.5:c.3300del (MSH6)	ENSP00000446475.1:p.Val1101LeufsTer9
ENST00000614496.4:c.2784del (MSH6)	ENSP00000477844.1:p.Val929LeufsTer9
ENST00000622629.4:c.594del (MSH6)	ENSP00000482078.1:p.Val199LeufsTer9
NM_000179.2:c.3690del , LRG_219t1:c.3690del (MSH6)	NP_000170.1:p.Val1231LeufsTer9
NM_001281492.1:c.3300del (MSH6)	NP_001268421.1:p.Val1101LeufsTer9
NM_001281493.1:c.2784del (MSH6)	NP_001268422.1:p.Val929LeufsTer9
NM_001281494.1:c.2784del (MSH6)	NP_001268423.1:p.Val929LeufsTer9
XM_005264271.1:c.3393del (MSH6)	XP_005264328.1:p.Val1132LeufsTer9
XM_011532798.1:c.3507del (MSH6)	XP_011531100.1:p.Val1170LeufsTer9
XM_011532799.1:c.3393del (MSH6)	XP_011531101.1:p.Val1132LeufsTer9
XM_011532800.1:c.3393del (MSH6)	XP_011531102.1:p.Val1132LeufsTer9
XM_024452819.1:c.3690del (MSH6)	XP_024308587.1:p.Val1231LeufsTer9
XM_024452820.1:c.3507del (MSH6)	XP_024308588.1:p.Val1170LeufsTer9
XM_024452821.1:c.3393del (MSH6)	XP_024308589.1:p.Val1132LeufsTer9
XM_024452822.1:c.2784del (MSH6)	XP_024308590.1:p.Val929LeufsTer9
NM_000179.3:c.3690del (MSH6) MANE Select	NP_000170.1:p.Val1231LeufsTer9
NM_001281492.2:c.3300del (MSH6)	NP_001268421.1:p.Val1101LeufsTer9
NM_001281493.2:c.2784del (MSH6)	NP_001268422.1:p.Val929LeufsTer9
NM_001281494.2:c.2784del (MSH6)	NP_001268423.1:p.Val929LeufsTer9