Canonical Allele Identifier: CA1139656971

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 923759
• ClinVar RCV Id: RCV001184683 ; RCV002560860 ; RCV003449602
• dbSNP Id: rs1670039388

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806208_47806209dup , CM000664.2:g.47806208_47806209dup	GRCh38
NC_000002.11:g.48033347_48033348dup , CM000664.1:g.48033347_48033348dup	GRCh37
NC_000002.10:g.47886851_47886852dup	NCBI36
NG_007111.1:g.28062_28063dup , LRG_219:g.28062_28063dup
NG_008397.1:g.104469_104470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3354_3355dup (MSH6)	ENSP00000406248.2:p.Gly1119GlufsTer11
ENST00000420813.6:c.3354_3355dup (MSH6)	ENSP00000390382.2:p.Gly1119GlufsTer11
ENST00000455383.6:c.3354_3355dup (MSH6)	ENSP00000397484.2:p.Gly1119GlufsTer11
ENST00000700004.2:c.3267_3268dup (MSH6)	ENSP00000514752.2:p.Gly1090GlufsTer11
ENST00000699999.1:n.4325_4326dup (MSH6)
ENST00000700000.1:c.2085_2086dup (MSH6)	ENSP00000514749.1:p.Gly696GlufsTer11
ENST00000700002.1:c.3657_3658dup (MSH6)	ENSP00000514750.1:p.Gly1220GlufsTer11
ENST00000700003.1:c.1106_1107dup (MSH6)	ENSP00000514751.1:n.1106_1107dup
ENST00000700004.1:c.2424_2425dup (MSH6)	ENSP00000514752.1:p.Gly809GlufsTer11
ENST00000700005.1:n.2502_2503dup (MSH6)
ENST00000700006.1:n.4809_4810dup (MSH6)
ENST00000700007.1:n.2246_2247dup (MSH6)
ENST00000700008.1:n.1820_1821dup (MSH6)
ENST00000700009.1:n.2315_2316dup (MSH6)
ENST00000700010.1:n.1060_1061dup (MSH6)
ENST00000700011.1:n.2945_2946dup (MSH6)
ENST00000682451.1:n.4541_4542dup (FBXO11)
ENST00000684712.1:n.4803_4804dup (FBXO11)
ENST00000234420.11:c.3651_3652dup (MSH6) MANE Select	ENSP00000234420.5:p.Gly1218GlufsTer11
ENST00000540021.6:c.3261_3262dup (MSH6)	ENSP00000446475.1:p.Gly1088GlufsTer11
ENST00000652107.1:c.3354_3355dup (MSH6)	ENSP00000498629.1:p.Gly1119GlufsTer11
ENST00000673637.1:c.3354_3355dup (MSH6)	ENSP00000501310.1:p.Gly1119GlufsTer11
ENST00000234420.9:c.3651_3652dup (MSH6)	ENSP00000234420.4:p.Gly1218GlufsTer11
ENST00000405808.5:c.169+1988_169+1989dup (FBXO11)	ENSP00000385127.1:n.169+1988_169+1989dup
ENST00000434234.5:c.*124+1787_*124+1788dup (FBXO11)	ENSP00000402692.1:n.*124+1787_*124+1788dup
ENST00000445503.5:c.*2998_*2999dup (MSH6)	ENSP00000405294.1:n.*2998_*2999dup
ENST00000538136.1:c.2745_2746dup (MSH6)	ENSP00000438580.1:p.Gly916GlufsTer11
ENST00000540021.5:c.3261_3262dup (MSH6)	ENSP00000446475.1:p.Gly1088GlufsTer11
ENST00000614496.4:c.2745_2746dup (MSH6)	ENSP00000477844.1:p.Gly916GlufsTer11
ENST00000622629.4:c.555_556dup (MSH6)	ENSP00000482078.1:p.Gly186GlufsTer11
NM_000179.2:c.3651_3652dup , LRG_219t1:c.3651_3652dup (MSH6)	NP_000170.1:p.Gly1218GlufsTer11
NM_001281492.1:c.3261_3262dup (MSH6)	NP_001268421.1:p.Gly1088GlufsTer11
NM_001281493.1:c.2745_2746dup (MSH6)	NP_001268422.1:p.Gly916GlufsTer11
NM_001281494.1:c.2745_2746dup (MSH6)	NP_001268423.1:p.Gly916GlufsTer11
XM_005264271.1:c.3354_3355dup (MSH6)	XP_005264328.1:p.Gly1119GlufsTer11
XM_011532798.1:c.3468_3469dup (MSH6)	XP_011531100.1:p.Gly1157GlufsTer11
XM_011532799.1:c.3354_3355dup (MSH6)	XP_011531101.1:p.Gly1119GlufsTer11
XM_011532800.1:c.3354_3355dup (MSH6)	XP_011531102.1:p.Gly1119GlufsTer11
XM_024452819.1:c.3651_3652dup (MSH6)	XP_024308587.1:p.Gly1218GlufsTer11
XM_024452820.1:c.3468_3469dup (MSH6)	XP_024308588.1:p.Gly1157GlufsTer11
XM_024452821.1:c.3354_3355dup (MSH6)	XP_024308589.1:p.Gly1119GlufsTer11
XM_024452822.1:c.2745_2746dup (MSH6)	XP_024308590.1:p.Gly916GlufsTer11
NM_000179.3:c.3651_3652dup (MSH6) MANE Select	NP_000170.1:p.Gly1218GlufsTer11
NM_001281492.2:c.3261_3262dup (MSH6)	NP_001268421.1:p.Gly1088GlufsTer11
NM_001281493.2:c.2745_2746dup (MSH6)	NP_001268422.1:p.Gly916GlufsTer11
NM_001281494.2:c.2745_2746dup (MSH6)	NP_001268423.1:p.Gly916GlufsTer11