Canonical Allele Identifier: CA2580067513

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1738350
• ClinVar RCV Id: RCV002333329

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799150_47799172dup , CM000664.2:g.47799150_47799172dup	GRCh38
NC_000002.11:g.48026289_48026311dup , CM000664.1:g.48026289_48026311dup	GRCh37
NC_000002.10:g.47879793_47879815dup	NCBI36
NG_007111.1:g.21004_21026dup , LRG_219:g.21004_21026dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.870_892dup (MSH6)	ENSP00000406248.2:p.Tyr298SerfsTer22
ENST00000420813.6:c.870_892dup (MSH6)	ENSP00000390382.2:p.Tyr298SerfsTer22
ENST00000455383.6:c.870_892dup (MSH6)	ENSP00000397484.2:p.Tyr298SerfsTer22
ENST00000700004.2:c.1167_1189dup (MSH6)	ENSP00000514752.2:p.Tyr397SerfsTer22
ENST00000699999.1:n.1251_1273dup (MSH6)
ENST00000700000.1:c.1167_1189dup (MSH6)	ENSP00000514749.1:p.Tyr397SerfsTer22
ENST00000700002.1:c.1173_1195dup (MSH6)	ENSP00000514750.1:p.Tyr399SerfsTer22
ENST00000700003.1:c.627+3087_627+3109dup (MSH6)	ENSP00000514751.1:n.627+3087_627+3109dup
ENST00000700004.1:c.324_346dup (MSH6)	ENSP00000514752.1:p.Tyr116SerfsTer22
ENST00000234420.11:c.1167_1189dup (MSH6) MANE Select	ENSP00000234420.5:p.Tyr397SerfsTer22
ENST00000540021.6:c.777_799dup (MSH6)	ENSP00000446475.1:p.Tyr267SerfsTer22
ENST00000652107.1:c.870_892dup (MSH6)	ENSP00000498629.1:p.Tyr298SerfsTer22
ENST00000673637.1:c.870_892dup (MSH6)	ENSP00000501310.1:p.Tyr298SerfsTer22
ENST00000234420.9:c.1167_1189dup (MSH6)	ENSP00000234420.4:p.Tyr397SerfsTer22
ENST00000405808.5:c.169+9023_169+9045dup (FBXO11)	ENSP00000385127.1:n.169+9023_169+9045dup
ENST00000434234.5:c.*124+8822_*124+8844dup (FBXO11)	ENSP00000402692.1:n.*124+8822_*124+8844dup
ENST00000445503.5:c.*514_*536dup (MSH6)	ENSP00000405294.1:n.*514_*536dup
ENST00000538136.1:c.261_283dup (MSH6)	ENSP00000438580.1:p.Tyr95SerfsTer22
ENST00000540021.5:c.777_799dup (MSH6)	ENSP00000446475.1:p.Tyr267SerfsTer22
ENST00000614496.4:c.261_283dup (MSH6)	ENSP00000477844.1:p.Tyr95SerfsTer22
ENST00000616033.4:c.1164_1186dup (MSH6)	ENSP00000480261.1:p.Tyr396SerfsTer22
ENST00000622629.4:c.-1930_-1908dup (MSH6)	ENSP00000482078.1:n.-1930_-1908dup
NM_000179.2:c.1167_1189dup , LRG_219t1:c.1167_1189dup (MSH6)	NP_000170.1:p.Tyr397SerfsTer22
NM_001281492.1:c.777_799dup (MSH6)	NP_001268421.1:p.Tyr267SerfsTer22
NM_001281493.1:c.261_283dup (MSH6)	NP_001268422.1:p.Tyr95SerfsTer22
NM_001281494.1:c.261_283dup (MSH6)	NP_001268423.1:p.Tyr95SerfsTer22
XM_005264271.1:c.870_892dup (MSH6)	XP_005264328.1:p.Tyr298SerfsTer22
XM_011532798.1:c.984_1006dup (MSH6)	XP_011531100.1:p.Tyr336SerfsTer22
XM_011532799.1:c.870_892dup (MSH6)	XP_011531101.1:p.Tyr298SerfsTer22
XM_011532800.1:c.870_892dup (MSH6)	XP_011531102.1:p.Tyr298SerfsTer22
XM_024452819.1:c.1167_1189dup (MSH6)	XP_024308587.1:p.Tyr397SerfsTer22
XM_024452820.1:c.984_1006dup (MSH6)	XP_024308588.1:p.Tyr336SerfsTer22
XM_024452821.1:c.870_892dup (MSH6)	XP_024308589.1:p.Tyr298SerfsTer22
XM_024452822.1:c.261_283dup (MSH6)	XP_024308590.1:p.Tyr95SerfsTer22
NM_000179.3:c.1167_1189dup (MSH6) MANE Select	NP_000170.1:p.Tyr397SerfsTer22
NM_001281492.2:c.777_799dup (MSH6)	NP_001268421.1:p.Tyr267SerfsTer22
NM_001281493.2:c.261_283dup (MSH6)	NP_001268422.1:p.Tyr95SerfsTer22
NM_001281494.2:c.261_283dup (MSH6)	NP_001268423.1:p.Tyr95SerfsTer22