Canonical Allele Identifier: CA2573134751

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1454867
• ClinVar RCV Id: RCV001942089 ; RCV003453863
• dbSNP Id: rs2104525000

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805676dup , CM000664.2:g.47805676dup	GRCh38
NC_000002.11:g.48032815dup , CM000664.1:g.48032815dup	GRCh37
NC_000002.10:g.47886319dup	NCBI36
NG_007111.1:g.27530dup , LRG_219:g.27530dup
NG_008397.1:g.105000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3318dup (MSH6)	ENSP00000406248.2:p.Ala1107SerfsTer9
ENST00000420813.6:c.3318dup (MSH6)	ENSP00000390382.2:p.Ala1107SerfsTer9
ENST00000455383.6:c.3318dup (MSH6)	ENSP00000397484.2:p.Ala1107SerfsTer9
ENST00000700004.2:c.3231dup (MSH6)	ENSP00000514752.2:p.Ala1078SerfsTer9
ENST00000699999.1:n.4289dup (MSH6)
ENST00000700000.1:c.2049dup (MSH6)	ENSP00000514749.1:p.Ala684SerfsTer9
ENST00000700002.1:c.3621dup (MSH6)	ENSP00000514750.1:p.Ala1208SerfsTer9
ENST00000700003.1:c.1070dup (MSH6)	ENSP00000514751.1:n.1070dup
ENST00000700004.1:c.2388dup (MSH6)	ENSP00000514752.1:p.Ala797SerfsTer9
ENST00000700005.1:n.2466dup (MSH6)
ENST00000700006.1:n.4277dup (MSH6)
ENST00000700007.1:n.2210dup (MSH6)
ENST00000700008.1:n.1784dup (MSH6)
ENST00000700009.1:n.1783dup (MSH6)
ENST00000700010.1:n.1024dup (MSH6)
ENST00000700011.1:n.2909dup (MSH6)
ENST00000234420.11:c.3615dup (MSH6) MANE Select	ENSP00000234420.5:p.Ala1206SerfsTer9
ENST00000540021.6:c.3225dup (MSH6)	ENSP00000446475.1:p.Ala1076SerfsTer9
ENST00000652107.1:c.3318dup (MSH6)	ENSP00000498629.1:p.Ala1107SerfsTer9
ENST00000673637.1:c.3318dup (MSH6)	ENSP00000501310.1:p.Ala1107SerfsTer9
ENST00000234420.9:c.3615dup (MSH6)	ENSP00000234420.4:p.Ala1206SerfsTer9
ENST00000405808.5:c.169+2519dup (FBXO11)	ENSP00000385127.1:n.169+2519dup
ENST00000434234.5:c.*124+2318dup (FBXO11)	ENSP00000402692.1:n.*124+2318dup
ENST00000445503.5:c.*2962dup (MSH6)	ENSP00000405294.1:n.*2962dup
ENST00000538136.1:c.2709dup (MSH6)	ENSP00000438580.1:p.Ala904SerfsTer9
ENST00000540021.5:c.3225dup (MSH6)	ENSP00000446475.1:p.Ala1076SerfsTer9
ENST00000614496.4:c.2709dup (MSH6)	ENSP00000477844.1:p.Ala904SerfsTer9
ENST00000622629.4:c.519dup (MSH6)	ENSP00000482078.1:p.Ala174SerfsTer9
NM_000179.2:c.3615dup , LRG_219t1:c.3615dup (MSH6)	NP_000170.1:p.Ala1206SerfsTer9
NM_001281492.1:c.3225dup (MSH6)	NP_001268421.1:p.Ala1076SerfsTer9
NM_001281493.1:c.2709dup (MSH6)	NP_001268422.1:p.Ala904SerfsTer9
NM_001281494.1:c.2709dup (MSH6)	NP_001268423.1:p.Ala904SerfsTer9
XM_005264271.1:c.3318dup (MSH6)	XP_005264328.1:p.Ala1107SerfsTer9
XM_011532798.1:c.3432dup (MSH6)	XP_011531100.1:p.Ala1145SerfsTer9
XM_011532799.1:c.3318dup (MSH6)	XP_011531101.1:p.Ala1107SerfsTer9
XM_011532800.1:c.3318dup (MSH6)	XP_011531102.1:p.Ala1107SerfsTer9
XM_024452819.1:c.3615dup (MSH6)	XP_024308587.1:p.Ala1206SerfsTer9
XM_024452820.1:c.3432dup (MSH6)	XP_024308588.1:p.Ala1145SerfsTer9
XM_024452821.1:c.3318dup (MSH6)	XP_024308589.1:p.Ala1107SerfsTer9
XM_024452822.1:c.2709dup (MSH6)	XP_024308590.1:p.Ala904SerfsTer9
NM_000179.3:c.3615dup (MSH6) MANE Select	NP_000170.1:p.Ala1206SerfsTer9
NM_001281492.2:c.3225dup (MSH6)	NP_001268421.1:p.Ala1076SerfsTer9
NM_001281493.2:c.2709dup (MSH6)	NP_001268422.1:p.Ala904SerfsTer9
NM_001281494.2:c.2709dup (MSH6)	NP_001268423.1:p.Ala904SerfsTer9