Canonical Allele Identifier: CA2580067048

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1729995
• ClinVar RCV Id: RCV002454706

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803549_47803600dup , CM000664.2:g.47803549_47803600dup	GRCh38
NC_000002.11:g.48030688_48030739dup , CM000664.1:g.48030688_48030739dup	GRCh37
NC_000002.10:g.47884192_47884243dup	NCBI36
NG_007111.1:g.25403_25454dup , LRG_219:g.25403_25454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3005_3056dup (MSH6)	ENSP00000406248.2:p.Glu1020AspfsTer6
ENST00000420813.6:c.3005_3056dup (MSH6)	ENSP00000390382.2:p.Glu1020AspfsTer6
ENST00000455383.6:c.3005_3056dup (MSH6)	ENSP00000397484.2:p.Glu1020AspfsTer6
ENST00000700004.2:c.3173-2069_3173-2018dup (MSH6)	ENSP00000514752.2:n.3173-2069_3173-2018dup
ENST00000699999.1:n.3386_3437dup (MSH6)
ENST00000700000.1:c.1736_1787dup (MSH6)	ENSP00000514749.1:p.Glu597AspfsTer6
ENST00000700002.1:c.3308_3359dup (MSH6)	ENSP00000514750.1:p.Glu1121AspfsTer6
ENST00000700003.1:c.757_808dup (MSH6)	ENSP00000514751.1:n.757_808dup
ENST00000700004.1:c.2330-2069_2330-2018dup (MSH6)	ENSP00000514752.1:n.2330-2069_2330-2018dup
ENST00000700005.1:n.2153_2204dup (MSH6)
ENST00000700006.1:n.2150_2201dup (MSH6)
ENST00000700007.1:n.1307_1358dup (MSH6)
ENST00000700008.1:n.881_932dup (MSH6)
ENST00000700009.1:n.880_931dup (MSH6)
ENST00000700010.1:n.711_762dup (MSH6)
ENST00000700011.1:n.782_833dup (MSH6)
ENST00000234420.11:c.3302_3353dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1119AspfsTer6
ENST00000540021.6:c.2912_2963dup (MSH6)	ENSP00000446475.1:p.Glu989AspfsTer6
ENST00000652107.1:c.3005_3056dup (MSH6)	ENSP00000498629.1:p.Glu1020AspfsTer6
ENST00000673637.1:c.3005_3056dup (MSH6)	ENSP00000501310.1:p.Glu1020AspfsTer6
ENST00000234420.9:c.3302_3353dup (MSH6)	ENSP00000234420.4:p.Glu1119AspfsTer6
ENST00000405808.5:c.169+4597_169+4648dup (FBXO11)	ENSP00000385127.1:n.169+4597_169+4648dup
ENST00000434234.5:c.*124+4396_*124+4447dup (FBXO11)	ENSP00000402692.1:n.*124+4396_*124+4447dup
ENST00000445503.5:c.*2649_*2700dup (MSH6)	ENSP00000405294.1:n.*2649_*2700dup
ENST00000538136.1:c.2396_2447dup (MSH6)	ENSP00000438580.1:p.Glu817AspfsTer6
ENST00000540021.5:c.2912_2963dup (MSH6)	ENSP00000446475.1:p.Glu989AspfsTer6
ENST00000614496.4:c.2396_2447dup (MSH6)	ENSP00000477844.1:p.Glu817AspfsTer6
ENST00000622629.4:c.206_257dup (MSH6)	ENSP00000482078.1:p.Glu87AspfsTer6
NM_000179.2:c.3302_3353dup , LRG_219t1:c.3302_3353dup (MSH6)	NP_000170.1:p.Glu1119AspfsTer6
NM_001281492.1:c.2912_2963dup (MSH6)	NP_001268421.1:p.Glu989AspfsTer6
NM_001281493.1:c.2396_2447dup (MSH6)	NP_001268422.1:p.Glu817AspfsTer6
NM_001281494.1:c.2396_2447dup (MSH6)	NP_001268423.1:p.Glu817AspfsTer6
XM_005264271.1:c.3005_3056dup (MSH6)	XP_005264328.1:p.Glu1020AspfsTer6
XM_011532798.1:c.3119_3170dup (MSH6)	XP_011531100.1:p.Glu1058AspfsTer6
XM_011532799.1:c.3005_3056dup (MSH6)	XP_011531101.1:p.Glu1020AspfsTer6
XM_011532800.1:c.3005_3056dup (MSH6)	XP_011531102.1:p.Glu1020AspfsTer6
XM_024452819.1:c.3302_3353dup (MSH6)	XP_024308587.1:p.Glu1119AspfsTer6
XM_024452820.1:c.3119_3170dup (MSH6)	XP_024308588.1:p.Glu1058AspfsTer6
XM_024452821.1:c.3005_3056dup (MSH6)	XP_024308589.1:p.Glu1020AspfsTer6
XM_024452822.1:c.2396_2447dup (MSH6)	XP_024308590.1:p.Glu817AspfsTer6
NM_000179.3:c.3302_3353dup (MSH6) MANE Select	NP_000170.1:p.Glu1119AspfsTer6
NM_001281492.2:c.2912_2963dup (MSH6)	NP_001268421.1:p.Glu989AspfsTer6
NM_001281493.2:c.2396_2447dup (MSH6)	NP_001268422.1:p.Glu817AspfsTer6
NM_001281494.2:c.2396_2447dup (MSH6)	NP_001268423.1:p.Glu817AspfsTer6