Canonical Allele Identifier: CA658822272

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 546050
• ClinVar RCV Id: RCV000657820 ; RCV003451611
• dbSNP Id: rs1553333690
• MyVariant Identifiers: chr2:g.48033740dup (hg19) ; chr2:g.47806601dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806601dup , CM000664.2:g.47806601dup	GRCh38
NC_000002.11:g.48033740dup , CM000664.1:g.48033740dup	GRCh37
NC_000002.10:g.47887244dup	NCBI36
NG_007111.1:g.28455dup , LRG_219:g.28455dup
NG_008397.1:g.104075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3654dup (MSH6)	ENSP00000406248.2:p.Arg1219Ter
ENST00000420813.6:c.3654dup (MSH6)	ENSP00000390382.2:p.Arg1219Ter
ENST00000455383.6:c.3654dup (MSH6)	ENSP00000397484.2:p.Arg1219Ter
ENST00000700004.2:c.3567dup (MSH6)	ENSP00000514752.2:p.Arg1190Ter
ENST00000699999.1:n.4625dup (MSH6)
ENST00000700000.1:c.2385dup (MSH6)	ENSP00000514749.1:p.Arg796Ter
ENST00000700002.1:c.3957dup (MSH6)	ENSP00000514750.1:p.Arg1320Ter
ENST00000700003.1:c.1406dup (MSH6)	ENSP00000514751.1:n.1406dup
ENST00000700004.1:c.2724dup (MSH6)	ENSP00000514752.1:p.Arg909Ter
ENST00000700005.1:n.2802dup (MSH6)
ENST00000700006.1:n.5109dup (MSH6)
ENST00000700007.1:n.2546dup (MSH6)
ENST00000700008.1:n.2213dup (MSH6)
ENST00000700009.1:n.2615dup (MSH6)
ENST00000700010.1:n.1360dup (MSH6)
ENST00000700011.1:n.3245dup (MSH6)
ENST00000682451.1:n.4147dup (FBXO11)
ENST00000684712.1:n.4409dup (FBXO11)
ENST00000234420.11:c.3951dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg1318Ter
ENST00000540021.6:c.3561dup (MSH6)	ENSP00000446475.1:p.Arg1188Ter
ENST00000652107.1:c.3654dup (MSH6)	ENSP00000498629.1:p.Arg1219Ter
ENST00000673637.1:c.3654dup (MSH6)	ENSP00000501310.1:p.Arg1219Ter
ENST00000234420.9:c.3951dup (MSH6)	ENSP00000234420.4:p.Arg1318Ter
ENST00000405808.5:c.169+1594dup (FBXO11)	ENSP00000385127.1:n.169+1594dup
ENST00000434234.5:c.*124+1393dup (FBXO11)	ENSP00000402692.1:n.*124+1393dup
ENST00000445503.5:c.*3298dup (MSH6)	ENSP00000405294.1:n.*3298dup
ENST00000538136.1:c.3045dup (MSH6)	ENSP00000438580.1:p.Arg1016Ter
ENST00000540021.5:c.3561dup (MSH6)	ENSP00000446475.1:p.Arg1188Ter
ENST00000614496.4:c.3045dup (MSH6)	ENSP00000477844.1:p.Arg1016Ter
ENST00000622629.4:c.852dup (MSH6)	ENSP00000482078.1:p.Arg285Ter
NM_000179.2:c.3951dup , LRG_219t1:c.3951dup (MSH6)	NP_000170.1:p.Arg1318Ter
NM_001281492.1:c.3561dup (MSH6)	NP_001268421.1:p.Arg1188Ter
NM_001281493.1:c.3045dup (MSH6)	NP_001268422.1:p.Arg1016Ter
NM_001281494.1:c.3045dup (MSH6)	NP_001268423.1:p.Arg1016Ter
XM_005264271.1:c.3654dup (MSH6)	XP_005264328.1:p.Arg1219Ter
XM_011532798.1:c.3768dup (MSH6)	XP_011531100.1:p.Arg1257Ter
XM_011532799.1:c.3654dup (MSH6)	XP_011531101.1:p.Arg1219Ter
XM_011532800.1:c.3654dup (MSH6)	XP_011531102.1:p.Arg1219Ter
XM_024452819.1:c.4044dup (MSH6)	XP_024308587.1:p.Arg1349Ter
XM_024452820.1:c.3861dup (MSH6)	XP_024308588.1:p.Arg1288Ter
XM_024452821.1:c.3747dup (MSH6)	XP_024308589.1:p.Arg1250Ter
XM_024452822.1:c.3138dup (MSH6)	XP_024308590.1:p.Arg1047Ter
NM_000179.3:c.3951dup (MSH6) MANE Select	NP_000170.1:p.Arg1318Ter
NM_001281492.2:c.3561dup (MSH6)	NP_001268421.1:p.Arg1188Ter
NM_001281493.2:c.3045dup (MSH6)	NP_001268422.1:p.Arg1016Ter
NM_001281494.2:c.3045dup (MSH6)	NP_001268423.1:p.Arg1016Ter