Canonical Allele Identifier: CA658655805

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455182
• ClinVar RCV Id: RCV000558657 ; RCV002431514 ; RCV004003673 ; RCV003449503
• dbSNP Id: rs1553413599
• MyVariant Identifiers: chr2:g.48027360dup (hg19) ; chr2:g.47800221dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800221dup , CM000664.2:g.47800221dup	GRCh38
NC_000002.11:g.48027360dup , CM000664.1:g.48027360dup	GRCh37
NC_000002.10:g.47880864dup	NCBI36
NG_007111.1:g.22075dup , LRG_219:g.22075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1941dup (MSH6)	ENSP00000406248.2:p.Leu648SerfsTer9
ENST00000420813.6:c.1941dup (MSH6)	ENSP00000390382.2:p.Leu648SerfsTer9
ENST00000455383.6:c.1941dup (MSH6)	ENSP00000397484.2:p.Leu648SerfsTer9
ENST00000700004.2:c.2238dup (MSH6)	ENSP00000514752.2:p.Leu747SerfsTer9
ENST00000699999.1:n.2322dup (MSH6)
ENST00000700000.1:c.1606+632dup (MSH6)	ENSP00000514749.1:n.1606+632dup
ENST00000700002.1:c.2244dup (MSH6)	ENSP00000514750.1:p.Leu749SerfsTer9
ENST00000700003.1:c.628-3199dup (MSH6)	ENSP00000514751.1:n.628-3199dup
ENST00000700004.1:c.1395dup (MSH6)	ENSP00000514752.1:p.Leu466SerfsTer9
ENST00000234420.11:c.2238dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu747SerfsTer9
ENST00000540021.6:c.1848dup (MSH6)	ENSP00000446475.1:p.Leu617SerfsTer9
ENST00000652107.1:c.1941dup (MSH6)	ENSP00000498629.1:p.Leu648SerfsTer9
ENST00000673637.1:c.1941dup (MSH6)	ENSP00000501310.1:p.Leu648SerfsTer9
ENST00000234420.9:c.2238dup (MSH6)	ENSP00000234420.4:p.Leu747SerfsTer9
ENST00000405808.5:c.169+7978dup (FBXO11)	ENSP00000385127.1:n.169+7978dup
ENST00000434234.5:c.*124+7777dup (FBXO11)	ENSP00000402692.1:n.*124+7777dup
ENST00000445503.5:c.*1585dup (MSH6)	ENSP00000405294.1:n.*1585dup
ENST00000538136.1:c.1332dup (MSH6)	ENSP00000438580.1:p.Leu445SerfsTer9
ENST00000540021.5:c.1848dup (MSH6)	ENSP00000446475.1:p.Leu617SerfsTer9
ENST00000614496.4:c.1332dup (MSH6)	ENSP00000477844.1:p.Leu445SerfsTer9
ENST00000616033.4:c.2235dup (MSH6)	ENSP00000480261.1:p.Leu746SerfsTer9
ENST00000622629.4:c.-859dup (MSH6)	ENSP00000482078.1:n.-859dup
NM_000179.2:c.2238dup , LRG_219t1:c.2238dup (MSH6)	NP_000170.1:p.Leu747SerfsTer9
NM_001281492.1:c.1848dup (MSH6)	NP_001268421.1:p.Leu617SerfsTer9
NM_001281493.1:c.1332dup (MSH6)	NP_001268422.1:p.Leu445SerfsTer9
NM_001281494.1:c.1332dup (MSH6)	NP_001268423.1:p.Leu445SerfsTer9
XM_005264271.1:c.1941dup (MSH6)	XP_005264328.1:p.Leu648SerfsTer9
XM_011532798.1:c.2055dup (MSH6)	XP_011531100.1:p.Leu686SerfsTer9
XM_011532799.1:c.1941dup (MSH6)	XP_011531101.1:p.Leu648SerfsTer9
XM_011532800.1:c.1941dup (MSH6)	XP_011531102.1:p.Leu648SerfsTer9
XM_024452819.1:c.2238dup (MSH6)	XP_024308587.1:p.Leu747SerfsTer9
XM_024452820.1:c.2055dup (MSH6)	XP_024308588.1:p.Leu686SerfsTer9
XM_024452821.1:c.1941dup (MSH6)	XP_024308589.1:p.Leu648SerfsTer9
XM_024452822.1:c.1332dup (MSH6)	XP_024308590.1:p.Leu445SerfsTer9
NM_000179.3:c.2238dup (MSH6) MANE Select	NP_000170.1:p.Leu747SerfsTer9
NM_001281492.2:c.1848dup (MSH6)	NP_001268421.1:p.Leu617SerfsTer9
NM_001281493.2:c.1332dup (MSH6)	NP_001268422.1:p.Leu445SerfsTer9
NM_001281494.2:c.1332dup (MSH6)	NP_001268423.1:p.Leu445SerfsTer9