Canonical Allele Identifier: CA915943806

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 818471
• ClinVar RCV Id: RCV001010085
• dbSNP Id: rs1572722017

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799167_47799173dup , CM000664.2:g.47799167_47799173dup	GRCh38
NC_000002.11:g.48026306_48026312dup , CM000664.1:g.48026306_48026312dup	GRCh37
NC_000002.10:g.47879810_47879816dup	NCBI36
NG_007111.1:g.21021_21027dup , LRG_219:g.21021_21027dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.887_893dup (MSH6)	ENSP00000406248.2:p.Val299ThrfsTer5
ENST00000420813.6:c.887_893dup (MSH6)	ENSP00000390382.2:p.Val299ThrfsTer5
ENST00000455383.6:c.887_893dup (MSH6)	ENSP00000397484.2:p.Val299ThrfsTer5
ENST00000700004.2:c.1184_1190dup (MSH6)	ENSP00000514752.2:p.Val398ThrfsTer5
ENST00000699999.1:n.1268_1274dup (MSH6)
ENST00000700000.1:c.1184_1190dup (MSH6)	ENSP00000514749.1:p.Val398ThrfsTer5
ENST00000700002.1:c.1190_1196dup (MSH6)	ENSP00000514750.1:p.Val400ThrfsTer5
ENST00000700003.1:c.627+3104_627+3110dup (MSH6)	ENSP00000514751.1:n.627+3104_627+3110dup
ENST00000700004.1:c.341_347dup (MSH6)	ENSP00000514752.1:p.Val117ThrfsTer5
ENST00000234420.11:c.1184_1190dup (MSH6) MANE Select	ENSP00000234420.5:p.Val398ThrfsTer5
ENST00000540021.6:c.794_800dup (MSH6)	ENSP00000446475.1:p.Val268ThrfsTer5
ENST00000652107.1:c.887_893dup (MSH6)	ENSP00000498629.1:p.Val299ThrfsTer5
ENST00000673637.1:c.887_893dup (MSH6)	ENSP00000501310.1:p.Val299ThrfsTer5
ENST00000234420.9:c.1184_1190dup (MSH6)	ENSP00000234420.4:p.Val398ThrfsTer5
ENST00000405808.5:c.169+9026_169+9032dup (FBXO11)	ENSP00000385127.1:n.169+9026_169+9032dup
ENST00000434234.5:c.*124+8825_*124+8831dup (FBXO11)	ENSP00000402692.1:n.*124+8825_*124+8831dup
ENST00000445503.5:c.*531_*537dup (MSH6)	ENSP00000405294.1:n.*531_*537dup
ENST00000538136.1:c.278_284dup (MSH6)	ENSP00000438580.1:p.Val96ThrfsTer5
ENST00000540021.5:c.794_800dup (MSH6)	ENSP00000446475.1:p.Val268ThrfsTer5
ENST00000614496.4:c.278_284dup (MSH6)	ENSP00000477844.1:p.Val96ThrfsTer5
ENST00000616033.4:c.1181_1187dup (MSH6)	ENSP00000480261.1:p.Val397ThrfsTer5
ENST00000622629.4:c.-1913_-1907dup (MSH6)	ENSP00000482078.1:n.-1913_-1907dup
NM_000179.2:c.1184_1190dup , LRG_219t1:c.1184_1190dup (MSH6)	NP_000170.1:p.Val398ThrfsTer5
NM_001281492.1:c.794_800dup (MSH6)	NP_001268421.1:p.Val268ThrfsTer5
NM_001281493.1:c.278_284dup (MSH6)	NP_001268422.1:p.Val96ThrfsTer5
NM_001281494.1:c.278_284dup (MSH6)	NP_001268423.1:p.Val96ThrfsTer5
XM_005264271.1:c.887_893dup (MSH6)	XP_005264328.1:p.Val299ThrfsTer5
XM_011532798.1:c.1001_1007dup (MSH6)	XP_011531100.1:p.Val337ThrfsTer5
XM_011532799.1:c.887_893dup (MSH6)	XP_011531101.1:p.Val299ThrfsTer5
XM_011532800.1:c.887_893dup (MSH6)	XP_011531102.1:p.Val299ThrfsTer5
XM_024452819.1:c.1184_1190dup (MSH6)	XP_024308587.1:p.Val398ThrfsTer5
XM_024452820.1:c.1001_1007dup (MSH6)	XP_024308588.1:p.Val337ThrfsTer5
XM_024452821.1:c.887_893dup (MSH6)	XP_024308589.1:p.Val299ThrfsTer5
XM_024452822.1:c.278_284dup (MSH6)	XP_024308590.1:p.Val96ThrfsTer5
NM_000179.3:c.1184_1190dup (MSH6) MANE Select	NP_000170.1:p.Val398ThrfsTer5
NM_001281492.2:c.794_800dup (MSH6)	NP_001268421.1:p.Val268ThrfsTer5
NM_001281493.2:c.278_284dup (MSH6)	NP_001268422.1:p.Val96ThrfsTer5
NM_001281494.2:c.278_284dup (MSH6)	NP_001268423.1:p.Val96ThrfsTer5