Canonical Allele Identifier: CA658653650

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 446214
• ClinVar RCV Id: RCV000515465 ; RCV002358396 ; RCV003449464
• dbSNP Id: rs1553333346
• MyVariant Identifiers: chr2:g.48033611dup (hg19) ; chr2:g.47806472dup (hg38)
• PubMed: PMID:22493294

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806472dup , CM000664.2:g.47806472dup	GRCh38
NC_000002.11:g.48033611dup , CM000664.1:g.48033611dup	GRCh37
NC_000002.10:g.47887115dup	NCBI36
NG_007111.1:g.28326dup , LRG_219:g.28326dup
NG_008397.1:g.104205dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3525dup (MSH6)	ENSP00000406248.2:p.Cys1176MetfsTer2
ENST00000420813.6:c.3525dup (MSH6)	ENSP00000390382.2:p.Cys1176MetfsTer2
ENST00000455383.6:c.3525dup (MSH6)	ENSP00000397484.2:p.Cys1176MetfsTer2
ENST00000700004.2:c.3438dup (MSH6)	ENSP00000514752.2:p.Cys1147MetfsTer2
ENST00000699999.1:n.4496dup (MSH6)
ENST00000700000.1:c.2256dup (MSH6)	ENSP00000514749.1:p.Cys753MetfsTer2
ENST00000700002.1:c.3828dup (MSH6)	ENSP00000514750.1:p.Cys1277MetfsTer2
ENST00000700003.1:c.1277dup (MSH6)	ENSP00000514751.1:n.1277dup
ENST00000700004.1:c.2595dup (MSH6)	ENSP00000514752.1:p.Cys866MetfsTer2
ENST00000700005.1:n.2673dup (MSH6)
ENST00000700006.1:n.4980dup (MSH6)
ENST00000700007.1:n.2417dup (MSH6)
ENST00000700008.1:n.2084dup (MSH6)
ENST00000700009.1:n.2486dup (MSH6)
ENST00000700010.1:n.1231dup (MSH6)
ENST00000700011.1:n.3116dup (MSH6)
ENST00000682451.1:n.4277dup (FBXO11)
ENST00000684712.1:n.4539dup (FBXO11)
ENST00000234420.11:c.3822dup (MSH6) MANE Select	ENSP00000234420.5:p.Cys1275MetfsTer2
ENST00000540021.6:c.3432dup (MSH6)	ENSP00000446475.1:p.Cys1145MetfsTer2
ENST00000652107.1:c.3525dup (MSH6)	ENSP00000498629.1:p.Cys1176MetfsTer2
ENST00000673637.1:c.3525dup (MSH6)	ENSP00000501310.1:p.Cys1176MetfsTer2
ENST00000234420.9:c.3822dup (MSH6)	ENSP00000234420.4:p.Cys1275MetfsTer2
ENST00000405808.5:c.169+1724dup (FBXO11)	ENSP00000385127.1:n.169+1724dup
ENST00000434234.5:c.*124+1523dup (FBXO11)	ENSP00000402692.1:n.*124+1523dup
ENST00000445503.5:c.*3169dup (MSH6)	ENSP00000405294.1:n.*3169dup
ENST00000538136.1:c.2916dup (MSH6)	ENSP00000438580.1:p.Cys973MetfsTer2
ENST00000540021.5:c.3432dup (MSH6)	ENSP00000446475.1:p.Cys1145MetfsTer2
ENST00000614496.4:c.2916dup (MSH6)	ENSP00000477844.1:p.Cys973MetfsTer2
ENST00000622629.4:c.723dup (MSH6)	ENSP00000482078.1:p.Cys242MetfsTer2
NM_000179.2:c.3822dup , LRG_219t1:c.3822dup (MSH6)	NP_000170.1:p.Cys1275MetfsTer2
NM_001281492.1:c.3432dup (MSH6)	NP_001268421.1:p.Cys1145MetfsTer2
NM_001281493.1:c.2916dup (MSH6)	NP_001268422.1:p.Cys973MetfsTer2
NM_001281494.1:c.2916dup (MSH6)	NP_001268423.1:p.Cys973MetfsTer2
XM_005264271.1:c.3525dup (MSH6)	XP_005264328.1:p.Cys1176MetfsTer2
XM_011532798.1:c.3639dup (MSH6)	XP_011531100.1:p.Cys1214MetfsTer2
XM_011532799.1:c.3525dup (MSH6)	XP_011531101.1:p.Cys1176MetfsTer2
XM_011532800.1:c.3525dup (MSH6)	XP_011531102.1:p.Cys1176MetfsTer2
XM_024452819.1:c.3915dup (MSH6)	XP_024308587.1:p.Cys1306MetfsTer2
XM_024452820.1:c.3732dup (MSH6)	XP_024308588.1:p.Cys1245MetfsTer2
XM_024452821.1:c.3618dup (MSH6)	XP_024308589.1:p.Cys1207MetfsTer2
XM_024452822.1:c.3009dup (MSH6)	XP_024308590.1:p.Cys1004MetfsTer2
NM_000179.3:c.3822dup (MSH6) MANE Select	NP_000170.1:p.Cys1275MetfsTer2
NM_001281492.2:c.3432dup (MSH6)	NP_001268421.1:p.Cys1145MetfsTer2
NM_001281493.2:c.2916dup (MSH6)	NP_001268422.1:p.Cys973MetfsTer2
NM_001281494.2:c.2916dup (MSH6)	NP_001268423.1:p.Cys973MetfsTer2