Canonical Allele Identifier: CA891842823

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 579707
• ClinVar RCV Id: RCV000703058
• dbSNP Id: rs1558658980
• MyVariant Identifiers: chr2:g.48025825_48025831del (hg19) ; chr2:g.47798686_47798692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798686_47798692del , CM000664.2:g.47798686_47798692del	GRCh38
NC_000002.11:g.48025825_48025831del , CM000664.1:g.48025825_48025831del	GRCh37
NC_000002.10:g.47879329_47879335del	NCBI36
NG_007111.1:g.20540_20546del , LRG_219:g.20540_20546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.406_412del (MSH6)	ENSP00000406248.2:p.Thr136AspfsTer9
ENST00000420813.6:c.406_412del (MSH6)	ENSP00000390382.2:p.Thr136AspfsTer9
ENST00000455383.6:c.406_412del (MSH6)	ENSP00000397484.2:p.Thr136AspfsTer9
ENST00000700004.2:c.703_709del (MSH6)	ENSP00000514752.2:p.Thr235AspfsTer9
ENST00000699999.1:n.787_793del (MSH6)
ENST00000700000.1:c.703_709del (MSH6)	ENSP00000514749.1:p.Thr235AspfsTer9
ENST00000700002.1:c.709_715del (MSH6)	ENSP00000514750.1:p.Thr237AspfsTer9
ENST00000700003.1:c.627+2623_627+2629del (MSH6)	ENSP00000514751.1:n.627+2623_627+2629del
ENST00000234420.11:c.703_709del (MSH6) MANE Select	ENSP00000234420.5:p.Thr235AspfsTer9
ENST00000540021.6:c.313_319del (MSH6)	ENSP00000446475.1:p.Thr105AspfsTer9
ENST00000652107.1:c.406_412del (MSH6)	ENSP00000498629.1:p.Thr136AspfsTer9
ENST00000673637.1:c.406_412del (MSH6)	ENSP00000501310.1:p.Thr136AspfsTer9
ENST00000673922.1:n.425_431del (MSH6)
ENST00000234420.9:c.703_709del (MSH6)	ENSP00000234420.4:p.Thr235AspfsTer9
ENST00000405808.5:c.170-9249_170-9243del (FBXO11)	ENSP00000385127.1:n.170-9249_170-9243del
ENST00000411819.1:c.406_412del (MSH6)	ENSP00000406248.1:p.Thr136AspfsTer9
ENST00000434234.5:c.*125-9249_*125-9243del (FBXO11)	ENSP00000402692.1:n.*125-9249_*125-9243del
ENST00000445503.5:c.*50_*56del (MSH6)	ENSP00000405294.1:n.*50_*56del
ENST00000456246.1:c.*191_*197del (MSH6)	ENSP00000410570.1:n.*191_*197del
ENST00000538136.1:c.-204_-198del (MSH6)	ENSP00000438580.1:n.-204_-198del
ENST00000540021.5:c.313_319del (MSH6)	ENSP00000446475.1:p.Thr105AspfsTer9
ENST00000614496.4:c.-204_-198del (MSH6)	ENSP00000477844.1:n.-204_-198del
ENST00000616033.4:c.700_706del (MSH6)	ENSP00000480261.1:p.Thr234AspfsTer9
ENST00000622629.4:c.-2394_-2388del (MSH6)	ENSP00000482078.1:n.-2394_-2388del
NM_000179.2:c.703_709del , LRG_219t1:c.703_709del (MSH6)	NP_000170.1:p.Thr235AspfsTer9
NM_001281492.1:c.313_319del (MSH6)	NP_001268421.1:p.Thr105AspfsTer9
NM_001281493.1:c.-204_-198del (MSH6)	NP_001268422.1:n.-204_-198del
NM_001281494.1:c.-204_-198del (MSH6)	NP_001268423.1:n.-204_-198del
XM_005264271.1:c.406_412del (MSH6)	XP_005264328.1:p.Thr136AspfsTer9
XM_011532798.1:c.520_526del (MSH6)	XP_011531100.1:p.Thr174AspfsTer9
XM_011532799.1:c.406_412del (MSH6)	XP_011531101.1:p.Thr136AspfsTer9
XM_011532800.1:c.406_412del (MSH6)	XP_011531102.1:p.Thr136AspfsTer9
XM_024452819.1:c.703_709del (MSH6)	XP_024308587.1:p.Thr235AspfsTer9
XM_024452820.1:c.520_526del (MSH6)	XP_024308588.1:p.Thr174AspfsTer9
XM_024452821.1:c.406_412del (MSH6)	XP_024308589.1:p.Thr136AspfsTer9
XM_024452822.1:c.-204_-198del (MSH6)	XP_024308590.1:n.-204_-198del
NM_000179.3:c.703_709del (MSH6) MANE Select	NP_000170.1:p.Thr235AspfsTer9
NM_001281492.2:c.313_319del (MSH6)	NP_001268421.1:p.Thr105AspfsTer9
NM_001281493.2:c.-204_-198del (MSH6)	NP_001268422.1:n.-204_-198del
NM_001281494.2:c.-204_-198del (MSH6)	NP_001268423.1:n.-204_-198del