Canonical Allele Identifier: CA2580067236

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2003210
• ClinVar RCV Id: RCV002825169

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805643_47805646dup , CM000664.2:g.47805643_47805646dup	GRCh38
NC_000002.11:g.48032782_48032785dup , CM000664.1:g.48032782_48032785dup	GRCh37
NC_000002.10:g.47886286_47886289dup	NCBI36
NG_007111.1:g.27497_27500dup , LRG_219:g.27497_27500dup
NG_008397.1:g.105031_105034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3285_3288dup (MSH6)	ENSP00000406248.2:p.Glu1097LysfsTer2
ENST00000420813.6:c.3285_3288dup (MSH6)	ENSP00000390382.2:p.Glu1097LysfsTer2
ENST00000455383.6:c.3285_3288dup (MSH6)	ENSP00000397484.2:p.Glu1097LysfsTer2
ENST00000700004.2:c.3198_3201dup (MSH6)	ENSP00000514752.2:p.Glu1068LysfsTer2
ENST00000699999.1:n.4256_4259dup (MSH6)
ENST00000700000.1:c.2016_2019dup (MSH6)	ENSP00000514749.1:p.Glu674LysfsTer2
ENST00000700002.1:c.3588_3591dup (MSH6)	ENSP00000514750.1:p.Glu1198LysfsTer2
ENST00000700003.1:c.1037_1040dup (MSH6)	ENSP00000514751.1:n.1037_1040dup
ENST00000700004.1:c.2355_2358dup (MSH6)	ENSP00000514752.1:p.Glu787LysfsTer2
ENST00000700005.1:n.2433_2436dup (MSH6)
ENST00000700006.1:n.4244_4247dup (MSH6)
ENST00000700007.1:n.2177_2180dup (MSH6)
ENST00000700008.1:n.1751_1754dup (MSH6)
ENST00000700009.1:n.1750_1753dup (MSH6)
ENST00000700010.1:n.991_994dup (MSH6)
ENST00000700011.1:n.2876_2879dup (MSH6)
ENST00000234420.11:c.3582_3585dup (MSH6) MANE Select	ENSP00000234420.5:p.Glu1196LysfsTer2
ENST00000540021.6:c.3192_3195dup (MSH6)	ENSP00000446475.1:p.Glu1066LysfsTer2
ENST00000652107.1:c.3285_3288dup (MSH6)	ENSP00000498629.1:p.Glu1097LysfsTer2
ENST00000673637.1:c.3285_3288dup (MSH6)	ENSP00000501310.1:p.Glu1097LysfsTer2
ENST00000234420.9:c.3582_3585dup (MSH6)	ENSP00000234420.4:p.Glu1196LysfsTer2
ENST00000405808.5:c.169+2550_169+2553dup (FBXO11)	ENSP00000385127.1:n.169+2550_169+2553dup
ENST00000434234.5:c.*124+2349_*124+2352dup (FBXO11)	ENSP00000402692.1:n.*124+2349_*124+2352dup
ENST00000445503.5:c.*2929_*2932dup (MSH6)	ENSP00000405294.1:n.*2929_*2932dup
ENST00000538136.1:c.2676_2679dup (MSH6)	ENSP00000438580.1:p.Glu894LysfsTer2
ENST00000540021.5:c.3192_3195dup (MSH6)	ENSP00000446475.1:p.Glu1066LysfsTer2
ENST00000614496.4:c.2676_2679dup (MSH6)	ENSP00000477844.1:p.Glu894LysfsTer2
ENST00000622629.4:c.486_489dup (MSH6)	ENSP00000482078.1:p.Glu164LysfsTer2
NM_000179.2:c.3582_3585dup , LRG_219t1:c.3582_3585dup (MSH6)	NP_000170.1:p.Glu1196LysfsTer2
NM_001281492.1:c.3192_3195dup (MSH6)	NP_001268421.1:p.Glu1066LysfsTer2
NM_001281493.1:c.2676_2679dup (MSH6)	NP_001268422.1:p.Glu894LysfsTer2
NM_001281494.1:c.2676_2679dup (MSH6)	NP_001268423.1:p.Glu894LysfsTer2
XM_005264271.1:c.3285_3288dup (MSH6)	XP_005264328.1:p.Glu1097LysfsTer2
XM_011532798.1:c.3399_3402dup (MSH6)	XP_011531100.1:p.Glu1135LysfsTer2
XM_011532799.1:c.3285_3288dup (MSH6)	XP_011531101.1:p.Glu1097LysfsTer2
XM_011532800.1:c.3285_3288dup (MSH6)	XP_011531102.1:p.Glu1097LysfsTer2
XM_024452819.1:c.3582_3585dup (MSH6)	XP_024308587.1:p.Glu1196LysfsTer2
XM_024452820.1:c.3399_3402dup (MSH6)	XP_024308588.1:p.Glu1135LysfsTer2
XM_024452821.1:c.3285_3288dup (MSH6)	XP_024308589.1:p.Glu1097LysfsTer2
XM_024452822.1:c.2676_2679dup (MSH6)	XP_024308590.1:p.Glu894LysfsTer2
NM_000179.3:c.3582_3585dup (MSH6) MANE Select	NP_000170.1:p.Glu1196LysfsTer2
NM_001281492.2:c.3192_3195dup (MSH6)	NP_001268421.1:p.Glu1066LysfsTer2
NM_001281493.2:c.2676_2679dup (MSH6)	NP_001268422.1:p.Glu894LysfsTer2
NM_001281494.2:c.2676_2679dup (MSH6)	NP_001268423.1:p.Glu894LysfsTer2