Canonical Allele Identifier: CA658655766

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 483848
• ClinVar RCV Id: RCV000568294
• dbSNP Id: rs1553333612
• MyVariant Identifiers: chr2:g.48033717_48033743dup (hg19) ; chr2:g.47806578_47806604dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806578_47806604dup , CM000664.2:g.47806578_47806604dup	GRCh38
NC_000002.11:g.48033717_48033743dup , CM000664.1:g.48033717_48033743dup	GRCh37
NC_000002.10:g.47887221_47887247dup	NCBI36
NG_007111.1:g.28432_28458dup , LRG_219:g.28432_28458dup
NG_008397.1:g.104073_104099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3631_3657dup (MSH6)	ENSP00000406248.2:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHi...
ENST00000420813.6:c.3631_3657dup (MSH6)	ENSP00000390382.2:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHi...
ENST00000455383.6:c.3631_3657dup (MSH6)	ENSP00000397484.2:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHi...
ENST00000700004.2:c.3544_3570dup (MSH6)	ENSP00000514752.2:p.Arg1190_Lys1191insGluGluValIleGlnLysGlyHi...
ENST00000699999.1:n.4602_4628dup (MSH6)
ENST00000700000.1:c.2362_2388dup (MSH6)	ENSP00000514749.1:p.Arg796_Lys797insGluGluValIleGlnLysGlyHisA...
ENST00000700002.1:c.3934_3960dup (MSH6)	ENSP00000514750.1:p.Arg1320_Lys1321insGluGluValIleGlnLysGlyHi...
ENST00000700003.1:c.1383_1409dup (MSH6)	ENSP00000514751.1:n.1383_1409dup
ENST00000700004.1:c.2701_2727dup (MSH6)	ENSP00000514752.1:p.Arg909_Lys910insGluGluValIleGlnLysGlyHisA...
ENST00000700005.1:n.2779_2805dup (MSH6)
ENST00000700006.1:n.5086_5112dup (MSH6)
ENST00000700007.1:n.2523_2549dup (MSH6)
ENST00000700008.1:n.2190_2216dup (MSH6)
ENST00000700009.1:n.2592_2618dup (MSH6)
ENST00000700010.1:n.1337_1363dup (MSH6)
ENST00000700011.1:n.3222_3248dup (MSH6)
ENST00000682451.1:n.4145_4171dup (FBXO11)
ENST00000684712.1:n.4407_4433dup (FBXO11)
ENST00000234420.11:c.3928_3954dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1318_Lys1319insGluGluValIleGlnLysGlyHi...
ENST00000540021.6:c.3538_3564dup (MSH6)	ENSP00000446475.1:p.Arg1188_Lys1189insGluGluValIleGlnLysGlyHi...
ENST00000652107.1:c.3631_3657dup (MSH6)	ENSP00000498629.1:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHi...
ENST00000673637.1:c.3631_3657dup (MSH6)	ENSP00000501310.1:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHi...
ENST00000234420.9:c.3928_3954dup (MSH6)	ENSP00000234420.4:p.Arg1318_Lys1319insGluGluValIleGlnLysGlyHi...
ENST00000405808.5:c.169+1592_169+1618dup (FBXO11)	ENSP00000385127.1:n.169+1592_169+1618dup
ENST00000434234.5:c.*124+1391_*124+1417dup (FBXO11)	ENSP00000402692.1:n.*124+1391_*124+1417dup
ENST00000445503.5:c.*3275_*3301dup (MSH6)	ENSP00000405294.1:n.*3275_*3301dup
ENST00000538136.1:c.3022_3048dup (MSH6)	ENSP00000438580.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHi...
ENST00000540021.5:c.3538_3564dup (MSH6)	ENSP00000446475.1:p.Arg1188_Lys1189insGluGluValIleGlnLysGlyHi...
ENST00000614496.4:c.3022_3048dup (MSH6)	ENSP00000477844.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHi...
ENST00000622629.4:c.829_855dup (MSH6)	ENSP00000482078.1:p.Arg285_Lys286insGluGluValIleGlnLysGlyHisA...
NM_000179.2:c.3928_3954dup , LRG_219t1:c.3928_3954dup (MSH6)	NP_000170.1:p.Arg1318_Lys1319insGluGluValIleGlnLysGlyHisArg
NM_001281492.1:c.3538_3564dup (MSH6)	NP_001268421.1:p.Arg1188_Lys1189insGluGluValIleGlnLysGlyHisAr...
NM_001281493.1:c.3022_3048dup (MSH6)	NP_001268422.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHisAr...
NM_001281494.1:c.3022_3048dup (MSH6)	NP_001268423.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHisAr...
XM_005264271.1:c.3631_3657dup (MSH6)	XP_005264328.1:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHisAr...
XM_011532798.1:c.3745_3771dup (MSH6)	XP_011531100.1:p.Arg1257_Lys1258insGluGluValIleGlnLysGlyHisAr...
XM_011532799.1:c.3631_3657dup (MSH6)	XP_011531101.1:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHisAr...
XM_011532800.1:c.3631_3657dup (MSH6)	XP_011531102.1:p.Arg1219_Lys1220insGluGluValIleGlnLysGlyHisAr...
XM_024452819.1:c.4021_4047dup (MSH6)	XP_024308587.1:p.Arg1349_Lys1350insGluGluValIleGlnLysGlyHisAr...
XM_024452820.1:c.3838_3864dup (MSH6)	XP_024308588.1:p.Arg1288_Lys1289insGluGluValIleGlnLysGlyHisAr...
XM_024452821.1:c.3724_3750dup (MSH6)	XP_024308589.1:p.Arg1250_Lys1251insGluGluValIleGlnLysGlyHisAr...
XM_024452822.1:c.3115_3141dup (MSH6)	XP_024308590.1:p.Arg1047_Lys1048insGluGluValIleGlnLysGlyHisAr...
NM_000179.3:c.3928_3954dup (MSH6) MANE Select	NP_000170.1:p.Arg1318_Lys1319insGluGluValIleGlnLysGlyHisArg
NM_001281492.2:c.3538_3564dup (MSH6)	NP_001268421.1:p.Arg1188_Lys1189insGluGluValIleGlnLysGlyHisAr...
NM_001281493.2:c.3022_3048dup (MSH6)	NP_001268422.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHisAr...
NM_001281494.2:c.3022_3048dup (MSH6)	NP_001268423.1:p.Arg1016_Lys1017insGluGluValIleGlnLysGlyHisAr...