Canonical Allele Identifier: CA2580067324

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734672
• ClinVar RCV Id: RCV002363846

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806317_47806318del , CM000664.2:g.47806317_47806318del	GRCh38
NC_000002.11:g.48033456_48033457del , CM000664.1:g.48033456_48033457del	GRCh37
NC_000002.10:g.47886960_47886961del	NCBI36
NG_007111.1:g.28171_28172del , LRG_219:g.28171_28172del
NG_008397.1:g.104359_104360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3463_3464del (MSH6)	ENSP00000406248.2:p.Glu1155ArgfsTer20
ENST00000420813.6:c.3463_3464del (MSH6)	ENSP00000390382.2:p.Glu1155ArgfsTer20
ENST00000455383.6:c.3463_3464del (MSH6)	ENSP00000397484.2:p.Glu1155ArgfsTer20
ENST00000700004.2:c.3376_3377del (MSH6)	ENSP00000514752.2:p.Glu1126ArgfsTer20
ENST00000699999.1:n.4434_4435del (MSH6)
ENST00000700000.1:c.2194_2195del (MSH6)	ENSP00000514749.1:p.Glu732ArgfsTer20
ENST00000700002.1:c.3766_3767del (MSH6)	ENSP00000514750.1:p.Glu1256ArgfsTer20
ENST00000700003.1:c.1215_1216del (MSH6)	ENSP00000514751.1:n.1215_1216del
ENST00000700004.1:c.2533_2534del (MSH6)	ENSP00000514752.1:p.Glu845ArgfsTer20
ENST00000700005.1:n.2611_2612del (MSH6)
ENST00000700006.1:n.4918_4919del (MSH6)
ENST00000700007.1:n.2355_2356del (MSH6)
ENST00000700008.1:n.1929_1930del (MSH6)
ENST00000700009.1:n.2424_2425del (MSH6)
ENST00000700010.1:n.1169_1170del (MSH6)
ENST00000700011.1:n.3054_3055del (MSH6)
ENST00000682451.1:n.4431_4432del (FBXO11)
ENST00000684712.1:n.4693_4694del (FBXO11)
ENST00000234420.11:c.3760_3761del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254ArgfsTer20
ENST00000540021.6:c.3370_3371del (MSH6)	ENSP00000446475.1:p.Glu1124ArgfsTer20
ENST00000652107.1:c.3463_3464del (MSH6)	ENSP00000498629.1:p.Glu1155ArgfsTer20
ENST00000673637.1:c.3463_3464del (MSH6)	ENSP00000501310.1:p.Glu1155ArgfsTer20
ENST00000234420.9:c.3760_3761del (MSH6)	ENSP00000234420.4:p.Glu1254ArgfsTer20
ENST00000405808.5:c.169+1878_169+1879del (FBXO11)	ENSP00000385127.1:n.169+1878_169+1879del
ENST00000434234.5:c.*124+1677_*124+1678del (FBXO11)	ENSP00000402692.1:n.*124+1677_*124+1678del
ENST00000445503.5:c.*3107_*3108del (MSH6)	ENSP00000405294.1:n.*3107_*3108del
ENST00000538136.1:c.2854_2855del (MSH6)	ENSP00000438580.1:p.Glu952ArgfsTer20
ENST00000540021.5:c.3370_3371del (MSH6)	ENSP00000446475.1:p.Glu1124ArgfsTer20
ENST00000614496.4:c.2854_2855del (MSH6)	ENSP00000477844.1:p.Glu952ArgfsTer20
ENST00000622629.4:c.662_663del (MSH6)	ENSP00000482078.1:p.Arg221LysfsTer20
NM_000179.2:c.3760_3761del , LRG_219t1:c.3760_3761del (MSH6)	NP_000170.1:p.Glu1254ArgfsTer20
NM_001281492.1:c.3370_3371del (MSH6)	NP_001268421.1:p.Glu1124ArgfsTer20
NM_001281493.1:c.2854_2855del (MSH6)	NP_001268422.1:p.Glu952ArgfsTer20
NM_001281494.1:c.2854_2855del (MSH6)	NP_001268423.1:p.Glu952ArgfsTer20
XM_005264271.1:c.3463_3464del (MSH6)	XP_005264328.1:p.Glu1155ArgfsTer20
XM_011532798.1:c.3577_3578del (MSH6)	XP_011531100.1:p.Glu1193ArgfsTer20
XM_011532799.1:c.3463_3464del (MSH6)	XP_011531101.1:p.Glu1155ArgfsTer20
XM_011532800.1:c.3463_3464del (MSH6)	XP_011531102.1:p.Glu1155ArgfsTer20
XM_024452819.1:c.3760_3761del (MSH6)	XP_024308587.1:p.Glu1254ArgfsTer27
XM_024452820.1:c.3577_3578del (MSH6)	XP_024308588.1:p.Glu1193ArgfsTer27
XM_024452821.1:c.3463_3464del (MSH6)	XP_024308589.1:p.Glu1155ArgfsTer27
XM_024452822.1:c.2854_2855del (MSH6)	XP_024308590.1:p.Glu952ArgfsTer27
NM_000179.3:c.3760_3761del (MSH6) MANE Select	NP_000170.1:p.Glu1254ArgfsTer20
NM_001281492.2:c.3370_3371del (MSH6)	NP_001268421.1:p.Glu1124ArgfsTer20
NM_001281493.2:c.2854_2855del (MSH6)	NP_001268422.1:p.Glu952ArgfsTer20
NM_001281494.2:c.2854_2855del (MSH6)	NP_001268423.1:p.Glu952ArgfsTer20