Canonical Allele Identifier: CA2580067320

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734618
• ClinVar RCV Id: RCV002349337

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806316_47806334del , CM000664.2:g.47806316_47806334del	GRCh38
NC_000002.11:g.48033455_48033473del , CM000664.1:g.48033455_48033473del	GRCh37
NC_000002.10:g.47886959_47886977del	NCBI36
NG_007111.1:g.28170_28188del , LRG_219:g.28170_28188del
NG_008397.1:g.104343_104361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3462_3480del (MSH6)	ENSP00000406248.2:p.Glu1155LeufsTer5
ENST00000420813.6:c.3462_3480del (MSH6)	ENSP00000390382.2:p.Glu1155LeufsTer5
ENST00000455383.6:c.3462_3480del (MSH6)	ENSP00000397484.2:p.Glu1155LeufsTer5
ENST00000700004.2:c.3375_3393del (MSH6)	ENSP00000514752.2:p.Glu1126LeufsTer5
ENST00000699999.1:n.4433_4451del (MSH6)
ENST00000700000.1:c.2193_2211del (MSH6)	ENSP00000514749.1:p.Glu732LeufsTer5
ENST00000700002.1:c.3765_3783del (MSH6)	ENSP00000514750.1:p.Glu1256LeufsTer5
ENST00000700003.1:c.1214_1232del (MSH6)	ENSP00000514751.1:n.1214_1232del
ENST00000700004.1:c.2532_2550del (MSH6)	ENSP00000514752.1:p.Glu845LeufsTer5
ENST00000700005.1:n.2610_2628del (MSH6)
ENST00000700006.1:n.4917_4935del (MSH6)
ENST00000700007.1:n.2354_2372del (MSH6)
ENST00000700008.1:n.1928_1946del (MSH6)
ENST00000700009.1:n.2423_2441del (MSH6)
ENST00000700010.1:n.1168_1186del (MSH6)
ENST00000700011.1:n.3053_3071del (MSH6)
ENST00000682451.1:n.4415_4433del (FBXO11)
ENST00000684712.1:n.4677_4695del (FBXO11)
ENST00000234420.11:c.3759_3777del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254LeufsTer5
ENST00000540021.6:c.3369_3387del (MSH6)	ENSP00000446475.1:p.Glu1124LeufsTer5
ENST00000652107.1:c.3462_3480del (MSH6)	ENSP00000498629.1:p.Glu1155LeufsTer5
ENST00000673637.1:c.3462_3480del (MSH6)	ENSP00000501310.1:p.Glu1155LeufsTer5
ENST00000234420.9:c.3759_3777del (MSH6)	ENSP00000234420.4:p.Glu1254LeufsTer5
ENST00000405808.5:c.169+1862_169+1880del (FBXO11)	ENSP00000385127.1:n.169+1862_169+1880del
ENST00000434234.5:c.*124+1661_*124+1679del (FBXO11)	ENSP00000402692.1:n.*124+1661_*124+1679del
ENST00000445503.5:c.*3106_*3124del (MSH6)	ENSP00000405294.1:n.*3106_*3124del
ENST00000538136.1:c.2853_2871del (MSH6)	ENSP00000438580.1:p.Glu952LeufsTer5
ENST00000540021.5:c.3369_3387del (MSH6)	ENSP00000446475.1:p.Glu1124LeufsTer5
ENST00000614496.4:c.2853_2871del (MSH6)	ENSP00000477844.1:p.Glu952LeufsTer5
ENST00000622629.4:c.661_679del (MSH6)	ENSP00000482078.1:p.Arg221ValfsTer5
NM_000179.2:c.3759_3777del , LRG_219t1:c.3759_3777del (MSH6)	NP_000170.1:p.Glu1254LeufsTer5
NM_001281492.1:c.3369_3387del (MSH6)	NP_001268421.1:p.Glu1124LeufsTer5
NM_001281493.1:c.2853_2871del (MSH6)	NP_001268422.1:p.Glu952LeufsTer5
NM_001281494.1:c.2853_2871del (MSH6)	NP_001268423.1:p.Glu952LeufsTer5
XM_005264271.1:c.3462_3480del (MSH6)	XP_005264328.1:p.Glu1155LeufsTer5
XM_011532798.1:c.3576_3594del (MSH6)	XP_011531100.1:p.Glu1193LeufsTer5
XM_011532799.1:c.3462_3480del (MSH6)	XP_011531101.1:p.Glu1155LeufsTer5
XM_011532800.1:c.3462_3480del (MSH6)	XP_011531102.1:p.Glu1155LeufsTer5
XM_024452819.1:c.3759_3777del (MSH6)	XP_024308587.1:p.Glu1254LeufsTer5
XM_024452820.1:c.3576_3594del (MSH6)	XP_024308588.1:p.Glu1193LeufsTer5
XM_024452821.1:c.3462_3480del (MSH6)	XP_024308589.1:p.Glu1155LeufsTer5
XM_024452822.1:c.2853_2871del (MSH6)	XP_024308590.1:p.Glu952LeufsTer5
NM_000179.3:c.3759_3777del (MSH6) MANE Select	NP_000170.1:p.Glu1254LeufsTer5
NM_001281492.2:c.3369_3387del (MSH6)	NP_001268421.1:p.Glu1124LeufsTer5
NM_001281493.2:c.2853_2871del (MSH6)	NP_001268422.1:p.Glu952LeufsTer5
NM_001281494.2:c.2853_2871del (MSH6)	NP_001268423.1:p.Glu952LeufsTer5