Canonical Allele Identifier: CA2576961616

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1736280
• ClinVar RCV Id: RCV002373231 ; RCV003094447

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806583_47806594dup , CM000664.2:g.47806583_47806594dup	GRCh38
NC_000002.11:g.48033722_48033733dup , CM000664.1:g.48033722_48033733dup	GRCh37
NC_000002.10:g.47887226_47887237dup	NCBI36
NG_007111.1:g.28437_28448dup , LRG_219:g.28437_28448dup
NG_008397.1:g.104083_104094dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3636_3647dup (MSH6)	ENSP00000406248.2:p.Lys1216_Gly1217insValIleGlnLys
ENST00000420813.6:c.3636_3647dup (MSH6)	ENSP00000390382.2:p.Lys1216_Gly1217insValIleGlnLys
ENST00000455383.6:c.3636_3647dup (MSH6)	ENSP00000397484.2:p.Lys1216_Gly1217insValIleGlnLys
ENST00000700004.2:c.3549_3560dup (MSH6)	ENSP00000514752.2:p.Lys1187_Gly1188insValIleGlnLys
ENST00000699999.1:n.4607_4618dup (MSH6)
ENST00000700000.1:c.2367_2378dup (MSH6)	ENSP00000514749.1:p.Lys793_Gly794insValIleGlnLys
ENST00000700002.1:c.3939_3950dup (MSH6)	ENSP00000514750.1:p.Lys1317_Gly1318insValIleGlnLys
ENST00000700003.1:c.1388_1399dup (MSH6)	ENSP00000514751.1:n.1388_1399dup
ENST00000700004.1:c.2706_2717dup (MSH6)	ENSP00000514752.1:p.Lys906_Gly907insValIleGlnLys
ENST00000700005.1:n.2784_2795dup (MSH6)
ENST00000700006.1:n.5091_5102dup (MSH6)
ENST00000700007.1:n.2528_2539dup (MSH6)
ENST00000700008.1:n.2195_2206dup (MSH6)
ENST00000700009.1:n.2597_2608dup (MSH6)
ENST00000700010.1:n.1342_1353dup (MSH6)
ENST00000700011.1:n.3227_3238dup (MSH6)
ENST00000682451.1:n.4155_4166dup (FBXO11)
ENST00000684712.1:n.4417_4428dup (FBXO11)
ENST00000234420.11:c.3933_3944dup (MSH6) MANE Select	ENSP00000234420.5:p.Lys1315_Gly1316insValIleGlnLys
ENST00000540021.6:c.3543_3554dup (MSH6)	ENSP00000446475.1:p.Lys1185_Gly1186insValIleGlnLys
ENST00000652107.1:c.3636_3647dup (MSH6)	ENSP00000498629.1:p.Lys1216_Gly1217insValIleGlnLys
ENST00000673637.1:c.3636_3647dup (MSH6)	ENSP00000501310.1:p.Lys1216_Gly1217insValIleGlnLys
ENST00000234420.9:c.3933_3944dup (MSH6)	ENSP00000234420.4:p.Lys1315_Gly1316insValIleGlnLys
ENST00000405808.5:c.169+1602_169+1613dup (FBXO11)	ENSP00000385127.1:n.169+1602_169+1613dup
ENST00000434234.5:c.*124+1401_*124+1412dup (FBXO11)	ENSP00000402692.1:n.*124+1401_*124+1412dup
ENST00000445503.5:c.*3280_*3291dup (MSH6)	ENSP00000405294.1:n.*3280_*3291dup
ENST00000538136.1:c.3027_3038dup (MSH6)	ENSP00000438580.1:p.Lys1013_Gly1014insValIleGlnLys
ENST00000540021.5:c.3543_3554dup (MSH6)	ENSP00000446475.1:p.Lys1185_Gly1186insValIleGlnLys
ENST00000614496.4:c.3027_3038dup (MSH6)	ENSP00000477844.1:p.Lys1013_Gly1014insValIleGlnLys
ENST00000622629.4:c.834_845dup (MSH6)	ENSP00000482078.1:p.Lys282_Gly283insValIleGlnLys
NM_000179.2:c.3933_3944dup , LRG_219t1:c.3933_3944dup (MSH6)	NP_000170.1:p.Lys1315_Gly1316insValIleGlnLys
NM_001281492.1:c.3543_3554dup (MSH6)	NP_001268421.1:p.Lys1185_Gly1186insValIleGlnLys
NM_001281493.1:c.3027_3038dup (MSH6)	NP_001268422.1:p.Lys1013_Gly1014insValIleGlnLys
NM_001281494.1:c.3027_3038dup (MSH6)	NP_001268423.1:p.Lys1013_Gly1014insValIleGlnLys
XM_005264271.1:c.3636_3647dup (MSH6)	XP_005264328.1:p.Lys1216_Gly1217insValIleGlnLys
XM_011532798.1:c.3750_3761dup (MSH6)	XP_011531100.1:p.Lys1254_Gly1255insValIleGlnLys
XM_011532799.1:c.3636_3647dup (MSH6)	XP_011531101.1:p.Lys1216_Gly1217insValIleGlnLys
XM_011532800.1:c.3636_3647dup (MSH6)	XP_011531102.1:p.Lys1216_Gly1217insValIleGlnLys
XM_024452819.1:c.4026_4037dup (MSH6)	XP_024308587.1:p.Lys1346_Gly1347insValIleGlnLys
XM_024452820.1:c.3843_3854dup (MSH6)	XP_024308588.1:p.Lys1285_Gly1286insValIleGlnLys
XM_024452821.1:c.3729_3740dup (MSH6)	XP_024308589.1:p.Lys1247_Gly1248insValIleGlnLys
XM_024452822.1:c.3120_3131dup (MSH6)	XP_024308590.1:p.Lys1044_Gly1045insValIleGlnLys
NM_000179.3:c.3933_3944dup (MSH6) MANE Select	NP_000170.1:p.Lys1315_Gly1316insValIleGlnLys
NM_001281492.2:c.3543_3554dup (MSH6)	NP_001268421.1:p.Lys1185_Gly1186insValIleGlnLys
NM_001281493.2:c.3027_3038dup (MSH6)	NP_001268422.1:p.Lys1013_Gly1014insValIleGlnLys
NM_001281494.2:c.3027_3038dup (MSH6)	NP_001268423.1:p.Lys1013_Gly1014insValIleGlnLys