Canonical Allele Identifier: CA913188045

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 922119
• ClinVar RCV Id: RCV001181984
• dbSNP Id: rs1670125444

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806577_47806588dup , CM000664.2:g.47806577_47806588dup	GRCh38
NC_000002.11:g.48033716_48033727dup , CM000664.1:g.48033716_48033727dup	GRCh37
NC_000002.10:g.47887220_47887231dup	NCBI36
NG_007111.1:g.28431_28442dup , LRG_219:g.28431_28442dup
NG_008397.1:g.104088_104099dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3630_3641dup (MSH6)	ENSP00000406248.2:p.Ile1214_Gln1215insGluGluValIle
ENST00000420813.6:c.3630_3641dup (MSH6)	ENSP00000390382.2:p.Ile1214_Gln1215insGluGluValIle
ENST00000455383.6:c.3630_3641dup (MSH6)	ENSP00000397484.2:p.Ile1214_Gln1215insGluGluValIle
ENST00000700004.2:c.3543_3554dup (MSH6)	ENSP00000514752.2:p.Ile1185_Gln1186insGluGluValIle
ENST00000699999.1:n.4601_4612dup (MSH6)
ENST00000700000.1:c.2361_2372dup (MSH6)	ENSP00000514749.1:p.Ile791_Gln792insGluGluValIle
ENST00000700002.1:c.3933_3944dup (MSH6)	ENSP00000514750.1:p.Ile1315_Gln1316insGluGluValIle
ENST00000700003.1:c.1382_1393dup (MSH6)	ENSP00000514751.1:n.1382_1393dup
ENST00000700004.1:c.2700_2711dup (MSH6)	ENSP00000514752.1:p.Ile904_Gln905insGluGluValIle
ENST00000700005.1:n.2778_2789dup (MSH6)
ENST00000700006.1:n.5085_5096dup (MSH6)
ENST00000700007.1:n.2522_2533dup (MSH6)
ENST00000700008.1:n.2189_2200dup (MSH6)
ENST00000700009.1:n.2591_2602dup (MSH6)
ENST00000700010.1:n.1336_1347dup (MSH6)
ENST00000700011.1:n.3221_3232dup (MSH6)
ENST00000682451.1:n.4160_4171dup (FBXO11)
ENST00000684712.1:n.4422_4433dup (FBXO11)
ENST00000234420.11:c.3927_3938dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1313_Gln1314insGluGluValIle
ENST00000540021.6:c.3537_3548dup (MSH6)	ENSP00000446475.1:p.Ile1183_Gln1184insGluGluValIle
ENST00000652107.1:c.3630_3641dup (MSH6)	ENSP00000498629.1:p.Ile1214_Gln1215insGluGluValIle
ENST00000673637.1:c.3630_3641dup (MSH6)	ENSP00000501310.1:p.Ile1214_Gln1215insGluGluValIle
ENST00000234420.9:c.3927_3938dup (MSH6)	ENSP00000234420.4:p.Ile1313_Gln1314insGluGluValIle
ENST00000405808.5:c.169+1607_169+1618dup (FBXO11)	ENSP00000385127.1:n.169+1607_169+1618dup
ENST00000434234.5:c.*124+1406_*124+1417dup (FBXO11)	ENSP00000402692.1:n.*124+1406_*124+1417dup
ENST00000445503.5:c.*3274_*3285dup (MSH6)	ENSP00000405294.1:n.*3274_*3285dup
ENST00000538136.1:c.3021_3032dup (MSH6)	ENSP00000438580.1:p.Ile1011_Gln1012insGluGluValIle
ENST00000540021.5:c.3537_3548dup (MSH6)	ENSP00000446475.1:p.Ile1183_Gln1184insGluGluValIle
ENST00000614496.4:c.3021_3032dup (MSH6)	ENSP00000477844.1:p.Ile1011_Gln1012insGluGluValIle
ENST00000622629.4:c.828_839dup (MSH6)	ENSP00000482078.1:p.Ile280_Gln281insGluGluValIle
NM_000179.2:c.3927_3938dup , LRG_219t1:c.3927_3938dup (MSH6)	NP_000170.1:p.Ile1313_Gln1314insGluGluValIle
NM_001281492.1:c.3537_3548dup (MSH6)	NP_001268421.1:p.Ile1183_Gln1184insGluGluValIle
NM_001281493.1:c.3021_3032dup (MSH6)	NP_001268422.1:p.Ile1011_Gln1012insGluGluValIle
NM_001281494.1:c.3021_3032dup (MSH6)	NP_001268423.1:p.Ile1011_Gln1012insGluGluValIle
XM_005264271.1:c.3630_3641dup (MSH6)	XP_005264328.1:p.Ile1214_Gln1215insGluGluValIle
XM_011532798.1:c.3744_3755dup (MSH6)	XP_011531100.1:p.Ile1252_Gln1253insGluGluValIle
XM_011532799.1:c.3630_3641dup (MSH6)	XP_011531101.1:p.Ile1214_Gln1215insGluGluValIle
XM_011532800.1:c.3630_3641dup (MSH6)	XP_011531102.1:p.Ile1214_Gln1215insGluGluValIle
XM_024452819.1:c.4020_4031dup (MSH6)	XP_024308587.1:p.Ile1344_Gln1345insGluGluValIle
XM_024452820.1:c.3837_3848dup (MSH6)	XP_024308588.1:p.Ile1283_Gln1284insGluGluValIle
XM_024452821.1:c.3723_3734dup (MSH6)	XP_024308589.1:p.Ile1245_Gln1246insGluGluValIle
XM_024452822.1:c.3114_3125dup (MSH6)	XP_024308590.1:p.Ile1042_Gln1043insGluGluValIle
NM_000179.3:c.3927_3938dup (MSH6) MANE Select	NP_000170.1:p.Ile1313_Gln1314insGluGluValIle
NM_001281492.2:c.3537_3548dup (MSH6)	NP_001268421.1:p.Ile1183_Gln1184insGluGluValIle
NM_001281493.2:c.3021_3032dup (MSH6)	NP_001268422.1:p.Ile1011_Gln1012insGluGluValIle
NM_001281494.2:c.3021_3032dup (MSH6)	NP_001268423.1:p.Ile1011_Gln1012insGluGluValIle