Canonical Allele Identifier: CA915943801

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 827041
• ClinVar RCV Id: RCV001026426 ; RCV001873409 ; RCV004017777 ; RCV003455136
• dbSNP Id: rs1572720192
• gnomAD v4: 2-47798724-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798725dup , CM000664.2:g.47798725dup	GRCh38
NC_000002.11:g.48025864dup , CM000664.1:g.48025864dup	GRCh37
NC_000002.10:g.47879368dup	NCBI36
NG_007111.1:g.20579dup , LRG_219:g.20579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.445dup (MSH6)	ENSP00000406248.2:p.Arg149ProfsTer8
ENST00000420813.6:c.445dup (MSH6)	ENSP00000390382.2:p.Arg149ProfsTer8
ENST00000455383.6:c.445dup (MSH6)	ENSP00000397484.2:p.Arg149ProfsTer8
ENST00000700004.2:c.742dup (MSH6)	ENSP00000514752.2:p.Arg248ProfsTer8
ENST00000699999.1:n.826dup (MSH6)
ENST00000700000.1:c.742dup (MSH6)	ENSP00000514749.1:p.Arg248ProfsTer8
ENST00000700002.1:c.748dup (MSH6)	ENSP00000514750.1:p.Arg250ProfsTer8
ENST00000700003.1:c.627+2662dup (MSH6)	ENSP00000514751.1:n.627+2662dup
ENST00000234420.11:c.742dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg248ProfsTer8
ENST00000540021.6:c.352dup (MSH6)	ENSP00000446475.1:p.Arg118ProfsTer8
ENST00000652107.1:c.445dup (MSH6)	ENSP00000498629.1:p.Arg149ProfsTer8
ENST00000673637.1:c.445dup (MSH6)	ENSP00000501310.1:p.Arg149ProfsTer8
ENST00000673922.1:n.464dup (MSH6)
ENST00000234420.9:c.742dup (MSH6)	ENSP00000234420.4:p.Arg248ProfsTer8
ENST00000405808.5:c.170-9285dup (FBXO11)	ENSP00000385127.1:n.170-9285dup
ENST00000411819.1:c.445dup (MSH6)	ENSP00000406248.1:p.Arg149ProfsTer?
ENST00000434234.5:c.*124+9269dup (FBXO11)	ENSP00000402692.1:n.*124+9269dup
ENST00000445503.5:c.*89dup (MSH6)	ENSP00000405294.1:n.*89dup
ENST00000456246.1:c.*230dup (MSH6)	ENSP00000410570.1:n.*230dup
ENST00000538136.1:c.-165dup (MSH6)	ENSP00000438580.1:n.-165dup
ENST00000540021.5:c.352dup (MSH6)	ENSP00000446475.1:p.Arg118ProfsTer8
ENST00000614496.4:c.-165dup (MSH6)	ENSP00000477844.1:n.-165dup
ENST00000616033.4:c.739dup (MSH6)	ENSP00000480261.1:p.Arg247ProfsTer8
ENST00000622629.4:c.-2355dup (MSH6)	ENSP00000482078.1:n.-2355dup
NM_000179.2:c.742dup , LRG_219t1:c.742dup (MSH6)	NP_000170.1:p.Arg248ProfsTer8
NM_001281492.1:c.352dup (MSH6)	NP_001268421.1:p.Arg118ProfsTer8
NM_001281493.1:c.-165dup (MSH6)	NP_001268422.1:n.-165dup
NM_001281494.1:c.-165dup (MSH6)	NP_001268423.1:n.-165dup
XM_005264271.1:c.445dup (MSH6)	XP_005264328.1:p.Arg149ProfsTer8
XM_011532798.1:c.559dup (MSH6)	XP_011531100.1:p.Arg187ProfsTer8
XM_011532799.1:c.445dup (MSH6)	XP_011531101.1:p.Arg149ProfsTer8
XM_011532800.1:c.445dup (MSH6)	XP_011531102.1:p.Arg149ProfsTer8
XM_024452819.1:c.742dup (MSH6)	XP_024308587.1:p.Arg248ProfsTer8
XM_024452820.1:c.559dup (MSH6)	XP_024308588.1:p.Arg187ProfsTer8
XM_024452821.1:c.445dup (MSH6)	XP_024308589.1:p.Arg149ProfsTer8
XM_024452822.1:c.-165dup (MSH6)	XP_024308590.1:n.-165dup
NM_000179.3:c.742dup (MSH6) MANE Select	NP_000170.1:p.Arg248ProfsTer8
NM_001281492.2:c.352dup (MSH6)	NP_001268421.1:p.Arg118ProfsTer8
NM_001281493.2:c.-165dup (MSH6)	NP_001268422.1:n.-165dup
NM_001281494.2:c.-165dup (MSH6)	NP_001268423.1:n.-165dup