Canonical Allele Identifier: CA2586969257

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673695
• ClinVar RCV Id: RCV003450332

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799490_47799502dup , CM000664.2:g.47799490_47799502dup	GRCh38
NC_000002.11:g.48026629_48026641dup , CM000664.1:g.48026629_48026641dup	GRCh37
NC_000002.10:g.47880133_47880145dup	NCBI36
NG_007111.1:g.21344_21356dup , LRG_219:g.21344_21356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1210_1222dup (MSH6)	ENSP00000406248.2:p.Arg408IlefsTer4
ENST00000420813.6:c.1210_1222dup (MSH6)	ENSP00000390382.2:p.Arg408IlefsTer4
ENST00000455383.6:c.1210_1222dup (MSH6)	ENSP00000397484.2:p.Arg408IlefsTer4
ENST00000700004.2:c.1507_1519dup (MSH6)	ENSP00000514752.2:p.Arg507IlefsTer4
ENST00000699999.1:n.1591_1603dup (MSH6)
ENST00000700000.1:c.1507_1519dup (MSH6)	ENSP00000514749.1:p.Arg507IlefsTer4
ENST00000700002.1:c.1513_1525dup (MSH6)	ENSP00000514750.1:p.Arg509IlefsTer4
ENST00000700003.1:c.627+3427_627+3439dup (MSH6)	ENSP00000514751.1:n.627+3427_627+3439dup
ENST00000700004.1:c.664_676dup (MSH6)	ENSP00000514752.1:p.Arg226IlefsTer4
ENST00000234420.11:c.1507_1519dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg507IlefsTer4
ENST00000540021.6:c.1117_1129dup (MSH6)	ENSP00000446475.1:p.Arg377IlefsTer4
ENST00000652107.1:c.1210_1222dup (MSH6)	ENSP00000498629.1:p.Arg408IlefsTer4
ENST00000673637.1:c.1210_1222dup (MSH6)	ENSP00000501310.1:p.Arg408IlefsTer4
ENST00000234420.9:c.1507_1519dup (MSH6)	ENSP00000234420.4:p.Arg507IlefsTer4
ENST00000405808.5:c.169+8696_169+8708dup (FBXO11)	ENSP00000385127.1:n.169+8696_169+8708dup
ENST00000434234.5:c.*124+8495_*124+8507dup (FBXO11)	ENSP00000402692.1:n.*124+8495_*124+8507dup
ENST00000445503.5:c.*854_*866dup (MSH6)	ENSP00000405294.1:n.*854_*866dup
ENST00000538136.1:c.601_613dup (MSH6)	ENSP00000438580.1:p.Arg205IlefsTer4
ENST00000540021.5:c.1117_1129dup (MSH6)	ENSP00000446475.1:p.Arg377IlefsTer4
ENST00000614496.4:c.601_613dup (MSH6)	ENSP00000477844.1:p.Arg205IlefsTer4
ENST00000616033.4:c.1504_1516dup (MSH6)	ENSP00000480261.1:p.Arg506IlefsTer4
ENST00000622629.4:c.-1590_-1578dup (MSH6)	ENSP00000482078.1:n.-1590_-1578dup
NM_000179.2:c.1507_1519dup , LRG_219t1:c.1507_1519dup (MSH6)	NP_000170.1:p.Arg507IlefsTer4
NM_001281492.1:c.1117_1129dup (MSH6)	NP_001268421.1:p.Arg377IlefsTer4
NM_001281493.1:c.601_613dup (MSH6)	NP_001268422.1:p.Arg205IlefsTer4
NM_001281494.1:c.601_613dup (MSH6)	NP_001268423.1:p.Arg205IlefsTer4
XM_005264271.1:c.1210_1222dup (MSH6)	XP_005264328.1:p.Arg408IlefsTer4
XM_011532798.1:c.1324_1336dup (MSH6)	XP_011531100.1:p.Arg446IlefsTer4
XM_011532799.1:c.1210_1222dup (MSH6)	XP_011531101.1:p.Arg408IlefsTer4
XM_011532800.1:c.1210_1222dup (MSH6)	XP_011531102.1:p.Arg408IlefsTer4
XM_024452819.1:c.1507_1519dup (MSH6)	XP_024308587.1:p.Arg507IlefsTer4
XM_024452820.1:c.1324_1336dup (MSH6)	XP_024308588.1:p.Arg446IlefsTer4
XM_024452821.1:c.1210_1222dup (MSH6)	XP_024308589.1:p.Arg408IlefsTer4
XM_024452822.1:c.601_613dup (MSH6)	XP_024308590.1:p.Arg205IlefsTer4
NM_000179.3:c.1507_1519dup (MSH6) MANE Select	NP_000170.1:p.Arg507IlefsTer4
NM_001281492.2:c.1117_1129dup (MSH6)	NP_001268421.1:p.Arg377IlefsTer4
NM_001281493.2:c.601_613dup (MSH6)	NP_001268422.1:p.Arg205IlefsTer4
NM_001281494.2:c.601_613dup (MSH6)	NP_001268423.1:p.Arg205IlefsTer4