Canonical Allele Identifier: CA2695200511

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673688
• ClinVar RCV Id: RCV003450325

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798879dup , CM000664.2:g.47798879dup	GRCh38
NC_000002.11:g.48026018dup , CM000664.1:g.48026018dup	GRCh37
NC_000002.10:g.47879522dup	NCBI36
NG_007111.1:g.20733dup , LRG_219:g.20733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.599dup (MSH6)	ENSP00000406248.2:p.Arg201AlafsTer12
ENST00000420813.6:c.599dup (MSH6)	ENSP00000390382.2:p.Arg201AlafsTer12
ENST00000455383.6:c.599dup (MSH6)	ENSP00000397484.2:p.Arg201AlafsTer12
ENST00000700004.2:c.896dup (MSH6)	ENSP00000514752.2:p.Arg300AlafsTer12
ENST00000699999.1:n.980dup (MSH6)
ENST00000700000.1:c.896dup (MSH6)	ENSP00000514749.1:p.Arg300AlafsTer12
ENST00000700002.1:c.902dup (MSH6)	ENSP00000514750.1:p.Arg302AlafsTer12
ENST00000700003.1:c.627+2816dup (MSH6)	ENSP00000514751.1:n.627+2816dup
ENST00000700004.1:c.53dup (MSH6)	ENSP00000514752.1:p.Arg19AlafsTer12
ENST00000234420.11:c.896dup (MSH6) MANE Select	ENSP00000234420.5:p.Arg300AlafsTer12
ENST00000540021.6:c.506dup (MSH6)	ENSP00000446475.1:p.Arg170AlafsTer12
ENST00000652107.1:c.599dup (MSH6)	ENSP00000498629.1:p.Arg201AlafsTer12
ENST00000673637.1:c.599dup (MSH6)	ENSP00000501310.1:p.Arg201AlafsTer12
ENST00000234420.9:c.896dup (MSH6)	ENSP00000234420.4:p.Arg300AlafsTer12
ENST00000405808.5:c.169+9318dup (FBXO11)	ENSP00000385127.1:n.169+9318dup
ENST00000434234.5:c.*124+9117dup (FBXO11)	ENSP00000402692.1:n.*124+9117dup
ENST00000445503.5:c.*243dup (MSH6)	ENSP00000405294.1:n.*243dup
ENST00000456246.1:c.*384dup (MSH6)	ENSP00000410570.1:n.*384dup
ENST00000538136.1:c.-11dup (MSH6)	ENSP00000438580.1:n.-11dup
ENST00000540021.5:c.506dup (MSH6)	ENSP00000446475.1:p.Arg170AlafsTer12
ENST00000614496.4:c.-11dup (MSH6)	ENSP00000477844.1:n.-11dup
ENST00000616033.4:c.893dup (MSH6)	ENSP00000480261.1:p.Arg299AlafsTer12
ENST00000622629.4:c.-2201dup (MSH6)	ENSP00000482078.1:n.-2201dup
NM_000179.2:c.896dup , LRG_219t1:c.896dup (MSH6)	NP_000170.1:p.Arg300AlafsTer12
NM_001281492.1:c.506dup (MSH6)	NP_001268421.1:p.Arg170AlafsTer12
NM_001281493.1:c.-11dup (MSH6)	NP_001268422.1:n.-11dup
NM_001281494.1:c.-11dup (MSH6)	NP_001268423.1:n.-11dup
XM_005264271.1:c.599dup (MSH6)	XP_005264328.1:p.Arg201AlafsTer12
XM_011532798.1:c.713dup (MSH6)	XP_011531100.1:p.Arg239AlafsTer12
XM_011532799.1:c.599dup (MSH6)	XP_011531101.1:p.Arg201AlafsTer12
XM_011532800.1:c.599dup (MSH6)	XP_011531102.1:p.Arg201AlafsTer12
XM_024452819.1:c.896dup (MSH6)	XP_024308587.1:p.Arg300AlafsTer12
XM_024452820.1:c.713dup (MSH6)	XP_024308588.1:p.Arg239AlafsTer12
XM_024452821.1:c.599dup (MSH6)	XP_024308589.1:p.Arg201AlafsTer12
XM_024452822.1:c.-11dup (MSH6)	XP_024308590.1:n.-11dup
NM_000179.3:c.896dup (MSH6) MANE Select	NP_000170.1:p.Arg300AlafsTer12
NM_001281492.2:c.506dup (MSH6)	NP_001268421.1:p.Arg170AlafsTer12
NM_001281493.2:c.-11dup (MSH6)	NP_001268422.1:n.-11dup
NM_001281494.2:c.-11dup (MSH6)	NP_001268423.1:n.-11dup