Canonical Allele Identifier: CA2695200533

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673713
• ClinVar RCV Id: RCV003450350

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800369_47800370del , CM000664.2:g.47800369_47800370del	GRCh38
NC_000002.11:g.48027508_48027509del , CM000664.1:g.48027508_48027509del	GRCh37
NC_000002.10:g.47881012_47881013del	NCBI36
NG_007111.1:g.22223_22224del , LRG_219:g.22223_22224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2089_2090del (MSH6)	ENSP00000406248.2:p.Glu697ArgfsTer7
ENST00000420813.6:c.2089_2090del (MSH6)	ENSP00000390382.2:p.Glu697ArgfsTer7
ENST00000455383.6:c.2089_2090del (MSH6)	ENSP00000397484.2:p.Glu697ArgfsTer7
ENST00000700004.2:c.2386_2387del (MSH6)	ENSP00000514752.2:p.Glu796ArgfsTer7
ENST00000699999.1:n.2470_2471del (MSH6)
ENST00000700000.1:c.1606+780_1606+781del (MSH6)	ENSP00000514749.1:n.1606+780_1606+781del
ENST00000700002.1:c.2392_2393del (MSH6)	ENSP00000514750.1:p.Glu798ArgfsTer7
ENST00000700003.1:c.628-3051_628-3050del (MSH6)	ENSP00000514751.1:n.628-3051_628-3050del
ENST00000700004.1:c.1543_1544del (MSH6)	ENSP00000514752.1:p.Glu515ArgfsTer7
ENST00000234420.11:c.2386_2387del (MSH6) MANE Select	ENSP00000234420.5:p.Glu796ArgfsTer7
ENST00000540021.6:c.1996_1997del (MSH6)	ENSP00000446475.1:p.Glu666ArgfsTer7
ENST00000652107.1:c.2089_2090del (MSH6)	ENSP00000498629.1:p.Glu697ArgfsTer7
ENST00000673637.1:c.2089_2090del (MSH6)	ENSP00000501310.1:p.Glu697ArgfsTer7
ENST00000234420.9:c.2386_2387del (MSH6)	ENSP00000234420.4:p.Glu796ArgfsTer7
ENST00000405808.5:c.169+7826_169+7827del (FBXO11)	ENSP00000385127.1:n.169+7826_169+7827del
ENST00000434234.5:c.*124+7625_*124+7626del (FBXO11)	ENSP00000402692.1:n.*124+7625_*124+7626del
ENST00000445503.5:c.*1733_*1734del (MSH6)	ENSP00000405294.1:n.*1733_*1734del
ENST00000538136.1:c.1480_1481del (MSH6)	ENSP00000438580.1:p.Glu494ArgfsTer7
ENST00000540021.5:c.1996_1997del (MSH6)	ENSP00000446475.1:p.Glu666ArgfsTer7
ENST00000614496.4:c.1480_1481del (MSH6)	ENSP00000477844.1:p.Glu494ArgfsTer7
ENST00000616033.4:c.2383_2384del (MSH6)	ENSP00000480261.1:p.Glu795ArgfsTer7
ENST00000622629.4:c.-711_-710del (MSH6)	ENSP00000482078.1:n.-711_-710del
NM_000179.2:c.2386_2387del , LRG_219t1:c.2386_2387del (MSH6)	NP_000170.1:p.Glu796ArgfsTer7
NM_001281492.1:c.1996_1997del (MSH6)	NP_001268421.1:p.Glu666ArgfsTer7
NM_001281493.1:c.1480_1481del (MSH6)	NP_001268422.1:p.Glu494ArgfsTer7
NM_001281494.1:c.1480_1481del (MSH6)	NP_001268423.1:p.Glu494ArgfsTer7
XM_005264271.1:c.2089_2090del (MSH6)	XP_005264328.1:p.Glu697ArgfsTer7
XM_011532798.1:c.2203_2204del (MSH6)	XP_011531100.1:p.Glu735ArgfsTer7
XM_011532799.1:c.2089_2090del (MSH6)	XP_011531101.1:p.Glu697ArgfsTer7
XM_011532800.1:c.2089_2090del (MSH6)	XP_011531102.1:p.Glu697ArgfsTer7
XM_024452819.1:c.2386_2387del (MSH6)	XP_024308587.1:p.Glu796ArgfsTer7
XM_024452820.1:c.2203_2204del (MSH6)	XP_024308588.1:p.Glu735ArgfsTer7
XM_024452821.1:c.2089_2090del (MSH6)	XP_024308589.1:p.Glu697ArgfsTer7
XM_024452822.1:c.1480_1481del (MSH6)	XP_024308590.1:p.Glu494ArgfsTer7
NM_000179.3:c.2386_2387del (MSH6) MANE Select	NP_000170.1:p.Glu796ArgfsTer7
NM_001281492.2:c.1996_1997del (MSH6)	NP_001268421.1:p.Glu666ArgfsTer7
NM_001281493.2:c.1480_1481del (MSH6)	NP_001268422.1:p.Glu494ArgfsTer7
NM_001281494.2:c.1480_1481del (MSH6)	NP_001268423.1:p.Glu494ArgfsTer7