Canonical Allele Identifier: CA658683232

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 490026
• ClinVar RCV Id: RCV000579473 ; RCV000629839
• dbSNP Id: rs1553412174
• MyVariant Identifiers: chr2:g.48025866_48025868del (hg19) ; chr2:g.47798727_47798729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798727_47798729del , CM000664.2:g.47798727_47798729del	GRCh38
NC_000002.11:g.48025866_48025868del , CM000664.1:g.48025866_48025868del	GRCh37
NC_000002.10:g.47879370_47879372del	NCBI36
NG_007111.1:g.20581_20583del , LRG_219:g.20581_20583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.447_449del (MSH6)	ENSP00000406248.2:p.Arg150del
ENST00000420813.6:c.447_449del (MSH6)	ENSP00000390382.2:p.Arg150del
ENST00000455383.6:c.447_449del (MSH6)	ENSP00000397484.2:p.Arg150del
ENST00000700004.2:c.744_746del (MSH6)	ENSP00000514752.2:p.Arg249del
ENST00000699999.1:n.828_830del (MSH6)
ENST00000700000.1:c.744_746del (MSH6)	ENSP00000514749.1:p.Arg249del
ENST00000700002.1:c.750_752del (MSH6)	ENSP00000514750.1:p.Arg251del
ENST00000700003.1:c.627+2664_627+2666del (MSH6)	ENSP00000514751.1:n.627+2664_627+2666del
ENST00000234420.11:c.744_746del (MSH6) MANE Select	ENSP00000234420.5:p.Arg249del
ENST00000540021.6:c.354_356del (MSH6)	ENSP00000446475.1:p.Arg119del
ENST00000652107.1:c.447_449del (MSH6)	ENSP00000498629.1:p.Arg150del
ENST00000673637.1:c.447_449del (MSH6)	ENSP00000501310.1:p.Arg150del
ENST00000673922.1:n.466_468del (MSH6)
ENST00000234420.9:c.744_746del (MSH6)	ENSP00000234420.4:p.Arg249del
ENST00000405808.5:c.170-9288_170-9286del (FBXO11)	ENSP00000385127.1:n.170-9288_170-9286del
ENST00000411819.1:c.447_449del (MSH6)	ENSP00000406248.1:p.Arg150del
ENST00000434234.5:c.*124+9266_*124+9268del (FBXO11)	ENSP00000402692.1:n.*124+9266_*124+9268del
ENST00000445503.5:c.*91_*93del (MSH6)	ENSP00000405294.1:n.*91_*93del
ENST00000456246.1:c.*232_*234del (MSH6)	ENSP00000410570.1:n.*232_*234del
ENST00000538136.1:c.-163_-161del (MSH6)	ENSP00000438580.1:n.-163_-161del
ENST00000540021.5:c.354_356del (MSH6)	ENSP00000446475.1:p.Arg119del
ENST00000614496.4:c.-163_-161del (MSH6)	ENSP00000477844.1:n.-163_-161del
ENST00000616033.4:c.741_743del (MSH6)	ENSP00000480261.1:p.Arg248del
ENST00000622629.4:c.-2353_-2351del (MSH6)	ENSP00000482078.1:n.-2353_-2351del
NM_000179.2:c.744_746del , LRG_219t1:c.744_746del (MSH6)	NP_000170.1:p.Arg249del
NM_001281492.1:c.354_356del (MSH6)	NP_001268421.1:p.Arg119del
NM_001281493.1:c.-163_-161del (MSH6)	NP_001268422.1:n.-163_-161del
NM_001281494.1:c.-163_-161del (MSH6)	NP_001268423.1:n.-163_-161del
XM_005264271.1:c.447_449del (MSH6)	XP_005264328.1:p.Arg150del
XM_011532798.1:c.561_563del (MSH6)	XP_011531100.1:p.Arg188del
XM_011532799.1:c.447_449del (MSH6)	XP_011531101.1:p.Arg150del
XM_011532800.1:c.447_449del (MSH6)	XP_011531102.1:p.Arg150del
XM_024452819.1:c.744_746del (MSH6)	XP_024308587.1:p.Arg249del
XM_024452820.1:c.561_563del (MSH6)	XP_024308588.1:p.Arg188del
XM_024452821.1:c.447_449del (MSH6)	XP_024308589.1:p.Arg150del
XM_024452822.1:c.-163_-161del (MSH6)	XP_024308590.1:n.-163_-161del
NM_000179.3:c.744_746del (MSH6) MANE Select	NP_000170.1:p.Arg249del
NM_001281492.2:c.354_356del (MSH6)	NP_001268421.1:p.Arg119del
NM_001281493.2:c.-163_-161del (MSH6)	NP_001268422.1:n.-163_-161del
NM_001281494.2:c.-163_-161del (MSH6)	NP_001268423.1:n.-163_-161del