Canonical Allele Identifier: CA2695200656

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673784
• ClinVar RCV Id: RCV003450421

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799948dup , CM000664.2:g.47799948dup	GRCh38
NC_000002.11:g.48027087dup , CM000664.1:g.48027087dup	GRCh37
NC_000002.10:g.47880591dup	NCBI36
NG_007111.1:g.21802dup , LRG_219:g.21802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1668dup (MSH6)	ENSP00000406248.2:p.Pro557ThrfsTer5
ENST00000420813.6:c.1668dup (MSH6)	ENSP00000390382.2:p.Pro557ThrfsTer5
ENST00000455383.6:c.1668dup (MSH6)	ENSP00000397484.2:p.Pro557ThrfsTer5
ENST00000700004.2:c.1965dup (MSH6)	ENSP00000514752.2:p.Pro656ThrfsTer5
ENST00000699999.1:n.2049dup (MSH6)
ENST00000700000.1:c.1606+359dup (MSH6)	ENSP00000514749.1:n.1606+359dup
ENST00000700002.1:c.1971dup (MSH6)	ENSP00000514750.1:p.Pro658ThrfsTer5
ENST00000700003.1:c.628-3472dup (MSH6)	ENSP00000514751.1:n.628-3472dup
ENST00000700004.1:c.1122dup (MSH6)	ENSP00000514752.1:p.Pro375ThrfsTer5
ENST00000234420.11:c.1965dup (MSH6) MANE Select	ENSP00000234420.5:p.Pro656ThrfsTer5
ENST00000540021.6:c.1575dup (MSH6)	ENSP00000446475.1:p.Pro526ThrfsTer5
ENST00000652107.1:c.1668dup (MSH6)	ENSP00000498629.1:p.Pro557ThrfsTer5
ENST00000673637.1:c.1668dup (MSH6)	ENSP00000501310.1:p.Pro557ThrfsTer5
ENST00000234420.9:c.1965dup (MSH6)	ENSP00000234420.4:p.Pro656ThrfsTer5
ENST00000405808.5:c.169+8247dup (FBXO11)	ENSP00000385127.1:n.169+8247dup
ENST00000434234.5:c.*124+8046dup (FBXO11)	ENSP00000402692.1:n.*124+8046dup
ENST00000445503.5:c.*1312dup (MSH6)	ENSP00000405294.1:n.*1312dup
ENST00000538136.1:c.1059dup (MSH6)	ENSP00000438580.1:p.Pro354ThrfsTer5
ENST00000540021.5:c.1575dup (MSH6)	ENSP00000446475.1:p.Pro526ThrfsTer5
ENST00000614496.4:c.1059dup (MSH6)	ENSP00000477844.1:p.Pro354ThrfsTer5
ENST00000616033.4:c.1962dup (MSH6)	ENSP00000480261.1:p.Pro655ThrfsTer5
ENST00000622629.4:c.-1132dup (MSH6)	ENSP00000482078.1:n.-1132dup
NM_000179.2:c.1965dup , LRG_219t1:c.1965dup (MSH6)	NP_000170.1:p.Pro656ThrfsTer5
NM_001281492.1:c.1575dup (MSH6)	NP_001268421.1:p.Pro526ThrfsTer5
NM_001281493.1:c.1059dup (MSH6)	NP_001268422.1:p.Pro354ThrfsTer5
NM_001281494.1:c.1059dup (MSH6)	NP_001268423.1:p.Pro354ThrfsTer5
XM_005264271.1:c.1668dup (MSH6)	XP_005264328.1:p.Pro557ThrfsTer5
XM_011532798.1:c.1782dup (MSH6)	XP_011531100.1:p.Pro595ThrfsTer5
XM_011532799.1:c.1668dup (MSH6)	XP_011531101.1:p.Pro557ThrfsTer5
XM_011532800.1:c.1668dup (MSH6)	XP_011531102.1:p.Pro557ThrfsTer5
XM_024452819.1:c.1965dup (MSH6)	XP_024308587.1:p.Pro656ThrfsTer5
XM_024452820.1:c.1782dup (MSH6)	XP_024308588.1:p.Pro595ThrfsTer5
XM_024452821.1:c.1668dup (MSH6)	XP_024308589.1:p.Pro557ThrfsTer5
XM_024452822.1:c.1059dup (MSH6)	XP_024308590.1:p.Pro354ThrfsTer5
NM_000179.3:c.1965dup (MSH6) MANE Select	NP_000170.1:p.Pro656ThrfsTer5
NM_001281492.2:c.1575dup (MSH6)	NP_001268421.1:p.Pro526ThrfsTer5
NM_001281493.2:c.1059dup (MSH6)	NP_001268422.1:p.Pro354ThrfsTer5
NM_001281494.2:c.1059dup (MSH6)	NP_001268423.1:p.Pro354ThrfsTer5