Canonical Allele Identifier: CA645372552

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 433913
• ClinVar RCV Id: RCV000500571
• dbSNP Id: rs1553413693
• MyVariant Identifiers: chr2:g.48027438_48027439dup (hg19) ; chr2:g.47800299_47800300dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800299_47800300dup , CM000664.2:g.47800299_47800300dup	GRCh38
NC_000002.11:g.48027438_48027439dup , CM000664.1:g.48027438_48027439dup	GRCh37
NC_000002.10:g.47880942_47880943dup	NCBI36
NG_007111.1:g.22153_22154dup , LRG_219:g.22153_22154dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2019_2020dup (MSH6)	ENSP00000406248.2:p.Leu674ArgfsTer3
ENST00000420813.6:c.2019_2020dup (MSH6)	ENSP00000390382.2:p.Leu674ArgfsTer3
ENST00000455383.6:c.2019_2020dup (MSH6)	ENSP00000397484.2:p.Leu674ArgfsTer3
ENST00000700004.2:c.2316_2317dup (MSH6)	ENSP00000514752.2:p.Leu773ArgfsTer3
ENST00000699999.1:n.2400_2401dup (MSH6)
ENST00000700000.1:c.1606+710_1606+711dup (MSH6)	ENSP00000514749.1:n.1606+710_1606+711dup
ENST00000700002.1:c.2322_2323dup (MSH6)	ENSP00000514750.1:p.Leu775ArgfsTer3
ENST00000700003.1:c.628-3121_628-3120dup (MSH6)	ENSP00000514751.1:n.628-3121_628-3120dup
ENST00000700004.1:c.1473_1474dup (MSH6)	ENSP00000514752.1:p.Leu492ArgfsTer3
ENST00000234420.11:c.2316_2317dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu773ArgfsTer3
ENST00000540021.6:c.1926_1927dup (MSH6)	ENSP00000446475.1:p.Leu643ArgfsTer3
ENST00000652107.1:c.2019_2020dup (MSH6)	ENSP00000498629.1:p.Leu674ArgfsTer3
ENST00000673637.1:c.2019_2020dup (MSH6)	ENSP00000501310.1:p.Leu674ArgfsTer3
ENST00000234420.9:c.2316_2317dup (MSH6)	ENSP00000234420.4:p.Leu773ArgfsTer3
ENST00000405808.5:c.169+7895_169+7896dup (FBXO11)	ENSP00000385127.1:n.169+7895_169+7896dup
ENST00000434234.5:c.*124+7694_*124+7695dup (FBXO11)	ENSP00000402692.1:n.*124+7694_*124+7695dup
ENST00000445503.5:c.*1663_*1664dup (MSH6)	ENSP00000405294.1:n.*1663_*1664dup
ENST00000538136.1:c.1410_1411dup (MSH6)	ENSP00000438580.1:p.Leu471ArgfsTer3
ENST00000540021.5:c.1926_1927dup (MSH6)	ENSP00000446475.1:p.Leu643ArgfsTer3
ENST00000614496.4:c.1410_1411dup (MSH6)	ENSP00000477844.1:p.Leu471ArgfsTer3
ENST00000616033.4:c.2313_2314dup (MSH6)	ENSP00000480261.1:p.Leu772ArgfsTer3
ENST00000622629.4:c.-781_-780dup (MSH6)	ENSP00000482078.1:n.-781_-780dup
NM_000179.2:c.2316_2317dup , LRG_219t1:c.2316_2317dup (MSH6)	NP_000170.1:p.Leu773ArgfsTer3
NM_001281492.1:c.1926_1927dup (MSH6)	NP_001268421.1:p.Leu643ArgfsTer3
NM_001281493.1:c.1410_1411dup (MSH6)	NP_001268422.1:p.Leu471ArgfsTer3
NM_001281494.1:c.1410_1411dup (MSH6)	NP_001268423.1:p.Leu471ArgfsTer3
XM_005264271.1:c.2019_2020dup (MSH6)	XP_005264328.1:p.Leu674ArgfsTer3
XM_011532798.1:c.2133_2134dup (MSH6)	XP_011531100.1:p.Leu712ArgfsTer3
XM_011532799.1:c.2019_2020dup (MSH6)	XP_011531101.1:p.Leu674ArgfsTer3
XM_011532800.1:c.2019_2020dup (MSH6)	XP_011531102.1:p.Leu674ArgfsTer3
XM_024452819.1:c.2316_2317dup (MSH6)	XP_024308587.1:p.Leu773ArgfsTer3
XM_024452820.1:c.2133_2134dup (MSH6)	XP_024308588.1:p.Leu712ArgfsTer3
XM_024452821.1:c.2019_2020dup (MSH6)	XP_024308589.1:p.Leu674ArgfsTer3
XM_024452822.1:c.1410_1411dup (MSH6)	XP_024308590.1:p.Leu471ArgfsTer3
NM_000179.3:c.2316_2317dup (MSH6) MANE Select	NP_000170.1:p.Leu773ArgfsTer3
NM_001281492.2:c.1926_1927dup (MSH6)	NP_001268421.1:p.Leu643ArgfsTer3
NM_001281493.2:c.1410_1411dup (MSH6)	NP_001268422.1:p.Leu471ArgfsTer3
NM_001281494.2:c.1410_1411dup (MSH6)	NP_001268423.1:p.Leu471ArgfsTer3