Canonical Allele Identifier: CA2697548142

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2690646
• ClinVar RCV Id: RCV003489389

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799611_47799612dup , CM000664.2:g.47799611_47799612dup	GRCh38
NC_000002.11:g.48026750_48026751dup , CM000664.1:g.48026750_48026751dup	GRCh37
NC_000002.10:g.47880254_47880255dup	NCBI36
NG_007111.1:g.21465_21466dup , LRG_219:g.21465_21466dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1331_1332dup (MSH6)	ENSP00000406248.2:p.Glu445LysfsTer28
ENST00000420813.6:c.1331_1332dup (MSH6)	ENSP00000390382.2:p.Glu445LysfsTer28
ENST00000455383.6:c.1331_1332dup (MSH6)	ENSP00000397484.2:p.Glu445LysfsTer28
ENST00000700004.2:c.1628_1629dup (MSH6)	ENSP00000514752.2:p.Glu544LysfsTer28
ENST00000699999.1:n.1712_1713dup (MSH6)
ENST00000700000.1:c.1606+22_1606+23dup (MSH6)	ENSP00000514749.1:n.1606+22_1606+23dup
ENST00000700002.1:c.1634_1635dup (MSH6)	ENSP00000514750.1:p.Glu546LysfsTer28
ENST00000700003.1:c.627+3548_627+3549dup (MSH6)	ENSP00000514751.1:n.627+3548_627+3549dup
ENST00000700004.1:c.785_786dup (MSH6)	ENSP00000514752.1:p.Glu263LysfsTer28
ENST00000234420.11:c.1628_1629dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu544LysfsTer28
ENST00000540021.6:c.1238_1239dup (MSH6)	ENSP00000446475.1:p.Glu414LysfsTer28
ENST00000652107.1:c.1331_1332dup (MSH6)	ENSP00000498629.1:p.Glu445LysfsTer28
ENST00000673637.1:c.1331_1332dup (MSH6)	ENSP00000501310.1:p.Glu445LysfsTer28
ENST00000234420.9:c.1628_1629dup (MSH6)	ENSP00000234420.4:p.Glu544LysfsTer28
ENST00000405808.5:c.169+8584_169+8585dup (FBXO11)	ENSP00000385127.1:n.169+8584_169+8585dup
ENST00000434234.5:c.*124+8383_*124+8384dup (FBXO11)	ENSP00000402692.1:n.*124+8383_*124+8384dup
ENST00000445503.5:c.*975_*976dup (MSH6)	ENSP00000405294.1:n.*975_*976dup
ENST00000538136.1:c.722_723dup (MSH6)	ENSP00000438580.1:p.Glu242LysfsTer28
ENST00000540021.5:c.1238_1239dup (MSH6)	ENSP00000446475.1:p.Glu414LysfsTer28
ENST00000614496.4:c.722_723dup (MSH6)	ENSP00000477844.1:p.Glu242LysfsTer28
ENST00000616033.4:c.1625_1626dup (MSH6)	ENSP00000480261.1:p.Glu543LysfsTer28
ENST00000622629.4:c.-1469_-1468dup (MSH6)	ENSP00000482078.1:n.-1469_-1468dup
NM_000179.2:c.1628_1629dup , LRG_219t1:c.1628_1629dup (MSH6)	NP_000170.1:p.Glu544LysfsTer28
NM_001281492.1:c.1238_1239dup (MSH6)	NP_001268421.1:p.Glu414LysfsTer28
NM_001281493.1:c.722_723dup (MSH6)	NP_001268422.1:p.Glu242LysfsTer28
NM_001281494.1:c.722_723dup (MSH6)	NP_001268423.1:p.Glu242LysfsTer28
XM_005264271.1:c.1331_1332dup (MSH6)	XP_005264328.1:p.Glu445LysfsTer28
XM_011532798.1:c.1445_1446dup (MSH6)	XP_011531100.1:p.Glu483LysfsTer28
XM_011532799.1:c.1331_1332dup (MSH6)	XP_011531101.1:p.Glu445LysfsTer28
XM_011532800.1:c.1331_1332dup (MSH6)	XP_011531102.1:p.Glu445LysfsTer28
XM_024452819.1:c.1628_1629dup (MSH6)	XP_024308587.1:p.Glu544LysfsTer28
XM_024452820.1:c.1445_1446dup (MSH6)	XP_024308588.1:p.Glu483LysfsTer28
XM_024452821.1:c.1331_1332dup (MSH6)	XP_024308589.1:p.Glu445LysfsTer28
XM_024452822.1:c.722_723dup (MSH6)	XP_024308590.1:p.Glu242LysfsTer28
NM_000179.3:c.1628_1629dup (MSH6) MANE Select	NP_000170.1:p.Glu544LysfsTer28
NM_001281492.2:c.1238_1239dup (MSH6)	NP_001268421.1:p.Glu414LysfsTer28
NM_001281493.2:c.722_723dup (MSH6)	NP_001268422.1:p.Glu242LysfsTer28
NM_001281494.2:c.722_723dup (MSH6)	NP_001268423.1:p.Glu242LysfsTer28