Canonical Allele Identifier: CA915943979

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824281
• ClinVar RCV Id: RCV001021257 ; RCV003455118 ; RCV001861014
• dbSNP Id: rs1572746488

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806489dup , CM000664.2:g.47806489dup	GRCh38
NC_000002.11:g.48033628dup , CM000664.1:g.48033628dup	GRCh37
NC_000002.10:g.47887132dup	NCBI36
NG_007111.1:g.28343dup , LRG_219:g.28343dup
NG_008397.1:g.104187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3542dup (MSH6)	ENSP00000406248.2:p.Glu1182GlyfsTer8
ENST00000420813.6:c.3542dup (MSH6)	ENSP00000390382.2:p.Glu1182GlyfsTer8
ENST00000455383.6:c.3542dup (MSH6)	ENSP00000397484.2:p.Glu1182GlyfsTer8
ENST00000700004.2:c.3455dup (MSH6)	ENSP00000514752.2:p.Glu1153GlyfsTer8
ENST00000699999.1:n.4513dup (MSH6)
ENST00000700000.1:c.2273dup (MSH6)	ENSP00000514749.1:p.Glu759GlyfsTer8
ENST00000700002.1:c.3845dup (MSH6)	ENSP00000514750.1:p.Glu1283GlyfsTer8
ENST00000700003.1:c.1294dup (MSH6)	ENSP00000514751.1:n.1294dup
ENST00000700004.1:c.2612dup (MSH6)	ENSP00000514752.1:p.Glu872GlyfsTer8
ENST00000700005.1:n.2690dup (MSH6)
ENST00000700006.1:n.4997dup (MSH6)
ENST00000700007.1:n.2434dup (MSH6)
ENST00000700008.1:n.2101dup (MSH6)
ENST00000700009.1:n.2503dup (MSH6)
ENST00000700010.1:n.1248dup (MSH6)
ENST00000700011.1:n.3133dup (MSH6)
ENST00000682451.1:n.4259dup (FBXO11)
ENST00000684712.1:n.4521dup (FBXO11)
ENST00000234420.11:c.3839dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1281GlyfsTer8
ENST00000540021.6:c.3449dup (MSH6)	ENSP00000446475.1:p.Glu1151GlyfsTer8
ENST00000652107.1:c.3542dup (MSH6)	ENSP00000498629.1:p.Glu1182GlyfsTer8
ENST00000673637.1:c.3542dup (MSH6)	ENSP00000501310.1:p.Glu1182GlyfsTer8
ENST00000234420.9:c.3839dup (MSH6)	ENSP00000234420.4:p.Glu1281GlyfsTer8
ENST00000405808.5:c.169+1706dup (FBXO11)	ENSP00000385127.1:n.169+1706dup
ENST00000434234.5:c.*124+1505dup (FBXO11)	ENSP00000402692.1:n.*124+1505dup
ENST00000445503.5:c.*3186dup (MSH6)	ENSP00000405294.1:n.*3186dup
ENST00000538136.1:c.2933dup (MSH6)	ENSP00000438580.1:p.Glu979GlyfsTer8
ENST00000540021.5:c.3449dup (MSH6)	ENSP00000446475.1:p.Glu1151GlyfsTer8
ENST00000614496.4:c.2933dup (MSH6)	ENSP00000477844.1:p.Glu979GlyfsTer8
ENST00000622629.4:c.740dup (MSH6)	ENSP00000482078.1:p.Glu248GlyfsTer8
NM_000179.2:c.3839dup , LRG_219t1:c.3839dup (MSH6)	NP_000170.1:p.Glu1281GlyfsTer8
NM_001281492.1:c.3449dup (MSH6)	NP_001268421.1:p.Glu1151GlyfsTer8
NM_001281493.1:c.2933dup (MSH6)	NP_001268422.1:p.Glu979GlyfsTer8
NM_001281494.1:c.2933dup (MSH6)	NP_001268423.1:p.Glu979GlyfsTer8
XM_005264271.1:c.3542dup (MSH6)	XP_005264328.1:p.Glu1182GlyfsTer8
XM_011532798.1:c.3656dup (MSH6)	XP_011531100.1:p.Glu1220GlyfsTer8
XM_011532799.1:c.3542dup (MSH6)	XP_011531101.1:p.Glu1182GlyfsTer8
XM_011532800.1:c.3542dup (MSH6)	XP_011531102.1:p.Glu1182GlyfsTer8
XM_024452819.1:c.3932dup (MSH6)	XP_024308587.1:p.Glu1312GlyfsTer8
XM_024452820.1:c.3749dup (MSH6)	XP_024308588.1:p.Glu1251GlyfsTer8
XM_024452821.1:c.3635dup (MSH6)	XP_024308589.1:p.Glu1213GlyfsTer8
XM_024452822.1:c.3026dup (MSH6)	XP_024308590.1:p.Glu1010GlyfsTer8
NM_000179.3:c.3839dup (MSH6) MANE Select	NP_000170.1:p.Glu1281GlyfsTer8
NM_001281492.2:c.3449dup (MSH6)	NP_001268421.1:p.Glu1151GlyfsTer8
NM_001281493.2:c.2933dup (MSH6)	NP_001268422.1:p.Glu979GlyfsTer8
NM_001281494.2:c.2933dup (MSH6)	NP_001268423.1:p.Glu979GlyfsTer8