Canonical Allele Identifier: CA013291

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 182681
• ClinVar RCV Id: RCV000160744
• dbSNP Id: rs730881828
• MyVariant Identifiers: chr2:g.48032133_48032134dupAC (hg19) ; chr2:g.47804994_47804995dupAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804994_47804995dup , CM000664.2:g.47804994_47804995dup	GRCh38
NC_000002.11:g.48032133_48032134dup , CM000664.1:g.48032133_48032134dup	GRCh37
NC_000002.10:g.47885637_47885638dup	NCBI36
NG_007111.1:g.26848_26849dup , LRG_219:g.26848_26849dup
NG_008397.1:g.105681_105682dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3226_3227dup (MSH6)	ENSP00000406248.2:p.Arg1077LeufsTer9
ENST00000420813.6:c.3226_3227dup (MSH6)	ENSP00000390382.2:p.Arg1077LeufsTer9
ENST00000455383.6:c.3226_3227dup (MSH6)	ENSP00000397484.2:p.Arg1077LeufsTer9
ENST00000700004.2:c.3173-624_3173-623dup (MSH6)	ENSP00000514752.2:n.3173-624_3173-623dup
ENST00000699999.1:n.3607_3608dup (MSH6)
ENST00000700000.1:c.1957_1958dup (MSH6)	ENSP00000514749.1:p.Arg654LeufsTer9
ENST00000700002.1:c.3529_3530dup (MSH6)	ENSP00000514750.1:p.Arg1178LeufsTer9
ENST00000700003.1:c.978_979dup (MSH6)	ENSP00000514751.1:n.978_979dup
ENST00000700004.1:c.2330-624_2330-623dup (MSH6)	ENSP00000514752.1:n.2330-624_2330-623dup
ENST00000700005.1:n.2374_2375dup (MSH6)
ENST00000700006.1:n.3595_3596dup (MSH6)
ENST00000700007.1:n.1528_1529dup (MSH6)
ENST00000700008.1:n.1102_1103dup (MSH6)
ENST00000700009.1:n.1101_1102dup (MSH6)
ENST00000700010.1:n.932_933dup (MSH6)
ENST00000700011.1:n.2227_2228dup (MSH6)
ENST00000234420.11:c.3523_3524dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1176LeufsTer9
ENST00000540021.6:c.3133_3134dup (MSH6)	ENSP00000446475.1:p.Arg1046LeufsTer9
ENST00000652107.1:c.3226_3227dup (MSH6)	ENSP00000498629.1:p.Arg1077LeufsTer9
ENST00000673637.1:c.3226_3227dup (MSH6)	ENSP00000501310.1:p.Arg1077LeufsTer9
ENST00000234420.9:c.3523_3524dup (MSH6)	ENSP00000234420.4:p.Arg1176LeufsTer9
ENST00000405808.5:c.169+3200_169+3201dup (FBXO11)	ENSP00000385127.1:n.169+3200_169+3201dup
ENST00000434234.5:c.*124+2999_*124+3000dup (FBXO11)	ENSP00000402692.1:n.*124+2999_*124+3000du...
ENST00000445503.5:c.*2870_*2871dup (MSH6)	ENSP00000405294.1:n.*2870_*2871dup
ENST00000538136.1:c.2617_2618dup (MSH6)	ENSP00000438580.1:p.Arg874LeufsTer9
ENST00000540021.5:c.3133_3134dup (MSH6)	ENSP00000446475.1:p.Arg1046LeufsTer9
ENST00000614496.4:c.2617_2618dup (MSH6)	ENSP00000477844.1:p.Arg874LeufsTer9
ENST00000622629.4:c.427_428dup (MSH6)	ENSP00000482078.1:p.Arg144LeufsTer9
NM_000179.2:c.3523_3524dup , LRG_219t1:c.3523_3524dup (MSH6)	NP_000170.1:p.Arg1176LeufsTer9
NM_001281492.1:c.3133_3134dup (MSH6)	NP_001268421.1:p.Arg1046LeufsTer9
NM_001281493.1:c.2617_2618dup (MSH6)	NP_001268422.1:p.Arg874LeufsTer9
NM_001281494.1:c.2617_2618dup (MSH6)	NP_001268423.1:p.Arg874LeufsTer9
XM_005264271.1:c.3226_3227dup (MSH6)	XP_005264328.1:p.Arg1077LeufsTer9
XM_011532798.1:c.3340_3341dup (MSH6)	XP_011531100.1:p.Arg1115LeufsTer9
XM_011532799.1:c.3226_3227dup (MSH6)	XP_011531101.1:p.Arg1077LeufsTer9
XM_011532800.1:c.3226_3227dup (MSH6)	XP_011531102.1:p.Arg1077LeufsTer9
XM_024452819.1:c.3523_3524dup (MSH6)	XP_024308587.1:p.Arg1176LeufsTer9
XM_024452820.1:c.3340_3341dup (MSH6)	XP_024308588.1:p.Arg1115LeufsTer9
XM_024452821.1:c.3226_3227dup (MSH6)	XP_024308589.1:p.Arg1077LeufsTer9
XM_024452822.1:c.2617_2618dup (MSH6)	XP_024308590.1:p.Arg874LeufsTer9
NM_000179.3:c.3523_3524dup (MSH6) MANE Select	NP_000170.1:p.Arg1176LeufsTer9
NM_001281492.2:c.3133_3134dup (MSH6)	NP_001268421.1:p.Arg1046LeufsTer9
NM_001281493.2:c.2617_2618dup (MSH6)	NP_001268422.1:p.Arg874LeufsTer9
NM_001281494.2:c.2617_2618dup (MSH6)	NP_001268423.1:p.Arg874LeufsTer9