Canonical Allele Identifier: CA2580067036

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1729751
• ClinVar RCV Id: RCV002445769

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803529_47803532dup , CM000664.2:g.47803529_47803532dup	GRCh38
NC_000002.11:g.48030668_48030671dup , CM000664.1:g.48030668_48030671dup	GRCh37
NC_000002.10:g.47884172_47884175dup	NCBI36
NG_007111.1:g.25383_25386dup , LRG_219:g.25383_25386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2985_2988dup (MSH6)	ENSP00000406248.2:p.His997ThrfsTer13
ENST00000420813.6:c.2985_2988dup (MSH6)	ENSP00000390382.2:p.His997ThrfsTer13
ENST00000455383.6:c.2985_2988dup (MSH6)	ENSP00000397484.2:p.His997ThrfsTer13
ENST00000700004.2:c.3173-2089_3173-2086dup (MSH6)	ENSP00000514752.2:n.3173-2089_3173-2086dup
ENST00000699999.1:n.3366_3369dup (MSH6)
ENST00000700000.1:c.1716_1719dup (MSH6)	ENSP00000514749.1:p.His574ThrfsTer13
ENST00000700002.1:c.3288_3291dup (MSH6)	ENSP00000514750.1:p.His1098ThrfsTer13
ENST00000700003.1:c.737_740dup (MSH6)	ENSP00000514751.1:n.737_740dup
ENST00000700004.1:c.2330-2089_2330-2086dup (MSH6)	ENSP00000514752.1:n.2330-2089_2330-2086dup
ENST00000700005.1:n.2133_2136dup (MSH6)
ENST00000700006.1:n.2130_2133dup (MSH6)
ENST00000700007.1:n.1287_1290dup (MSH6)
ENST00000700008.1:n.861_864dup (MSH6)
ENST00000700009.1:n.860_863dup (MSH6)
ENST00000700010.1:n.691_694dup (MSH6)
ENST00000700011.1:n.762_765dup (MSH6)
ENST00000234420.11:c.3282_3285dup (MSH6) MANE Select	ENSP00000234420.5:p.His1096ThrfsTer13
ENST00000540021.6:c.2892_2895dup (MSH6)	ENSP00000446475.1:p.His966ThrfsTer13
ENST00000652107.1:c.2985_2988dup (MSH6)	ENSP00000498629.1:p.His997ThrfsTer13
ENST00000673637.1:c.2985_2988dup (MSH6)	ENSP00000501310.1:p.His997ThrfsTer13
ENST00000234420.9:c.3282_3285dup (MSH6)	ENSP00000234420.4:p.His1096ThrfsTer13
ENST00000405808.5:c.169+4664_169+4667dup (FBXO11)	ENSP00000385127.1:n.169+4664_169+4667dup
ENST00000434234.5:c.*124+4463_*124+4466dup (FBXO11)	ENSP00000402692.1:n.*124+4463_*124+4466dup
ENST00000445503.5:c.*2629_*2632dup (MSH6)	ENSP00000405294.1:n.*2629_*2632dup
ENST00000538136.1:c.2376_2379dup (MSH6)	ENSP00000438580.1:p.His794ThrfsTer13
ENST00000540021.5:c.2892_2895dup (MSH6)	ENSP00000446475.1:p.His966ThrfsTer13
ENST00000614496.4:c.2376_2379dup (MSH6)	ENSP00000477844.1:p.His794ThrfsTer13
ENST00000622629.4:c.186_189dup (MSH6)	ENSP00000482078.1:p.His64ThrfsTer13
NM_000179.2:c.3282_3285dup , LRG_219t1:c.3282_3285dup (MSH6)	NP_000170.1:p.His1096ThrfsTer13
NM_001281492.1:c.2892_2895dup (MSH6)	NP_001268421.1:p.His966ThrfsTer13
NM_001281493.1:c.2376_2379dup (MSH6)	NP_001268422.1:p.His794ThrfsTer13
NM_001281494.1:c.2376_2379dup (MSH6)	NP_001268423.1:p.His794ThrfsTer13
XM_005264271.1:c.2985_2988dup (MSH6)	XP_005264328.1:p.His997ThrfsTer13
XM_011532798.1:c.3099_3102dup (MSH6)	XP_011531100.1:p.His1035ThrfsTer13
XM_011532799.1:c.2985_2988dup (MSH6)	XP_011531101.1:p.His997ThrfsTer13
XM_011532800.1:c.2985_2988dup (MSH6)	XP_011531102.1:p.His997ThrfsTer13
XM_024452819.1:c.3282_3285dup (MSH6)	XP_024308587.1:p.His1096ThrfsTer13
XM_024452820.1:c.3099_3102dup (MSH6)	XP_024308588.1:p.His1035ThrfsTer13
XM_024452821.1:c.2985_2988dup (MSH6)	XP_024308589.1:p.His997ThrfsTer13
XM_024452822.1:c.2376_2379dup (MSH6)	XP_024308590.1:p.His794ThrfsTer13
NM_000179.3:c.3282_3285dup (MSH6) MANE Select	NP_000170.1:p.His1096ThrfsTer13
NM_001281492.2:c.2892_2895dup (MSH6)	NP_001268421.1:p.His966ThrfsTer13
NM_001281493.2:c.2376_2379dup (MSH6)	NP_001268422.1:p.His794ThrfsTer13
NM_001281494.2:c.2376_2379dup (MSH6)	NP_001268423.1:p.His794ThrfsTer13