Canonical Allele Identifier: CA067844
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 418318
dbSNP Id: rs767894453

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783398_47783403dup , CM000664.2:g.47783398_47783403dup GRCh38
NC_000002.11:g.48010537_48010542dup , CM000664.1:g.48010537_48010542dup GRCh37
NC_000002.10:g.47864041_47864046dup NCBI36
NG_007111.1:g.5252_5257dup , LRG_219:g.5252_5257dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.165_170dup ENSP00000514752.2:p.Pro57_Arg58insGlyPro
ENST00000699999.1:n.249_254dup
ENST00000700000.1:c.165_170dup ENSP00000514749.1:p.Pro57_Arg58insGlyPro
ENST00000700001.1:n.237_242dup
ENST00000700002.1:c.165_170dup ENSP00000514750.1:p.Pro57_Arg58insGlyPro
ENST00000700003.1:c.165_170dup ENSP00000514751.1:p.Pro57_Arg58insGlyPro
ENST00000234420.11:c.165_170dup MANE Select ENSP00000234420.5:p.Pro57_Arg58insGlyPro
ENST00000540021.6:c.165_170dup ENSP00000446475.1:p.Pro57_Arg58insGlyPro
ENST00000652107.1:c.-37-7529_-37-7524dup ENSP00000498629.1:n.-37-7529_-37-7524dup
ENST00000673637.1:c.-38+167_-38+172dup ENSP00000501310.1:n.-38+167_-38+172dup
ENST00000673922.1:n.254_259dup
ENST00000234420.9:c.165_170dup ENSP00000234420.4:p.Pro57_Arg58insGlyPro
ENST00000445503.5:c.165_170dup ENSP00000405294.1:p.Pro57_Arg58insGlyPro
ENST00000456246.1:c.165_170dup ENSP00000410570.1:p.Pro57_Arg58insGlyPro
ENST00000493177.1:n.229_234dup
ENST00000540021.5:c.165_170dup ENSP00000446475.1:p.Pro57_Arg58insGlyPro
ENST00000606499.1:c.-37-7529_-37-7524dup ENSP00000475605.1:n.-37-7529_-37-7524dup
ENST00000614496.4:c.-572_-567dup ENSP00000477844.1:n.-572_-567dup
ENST00000616033.4:c.163_168dup ENSP00000480261.1:p.Ala56_Arg57insTrpAla
ENST00000622629.4:c.-2932_-2927dup ENSP00000482078.1:n.-2932_-2927dup
NM_000179.2:c.165_170dup , LRG_219t1:c.165_170dup NP_000170.1:p.Pro57_Arg58insGlyPro
NM_001281492.1:c.165_170dup NP_001268421.1:p.Pro57_Arg58insGlyPro
NM_001281493.1:c.-572_-567dup NP_001268422.1:n.-572_-567dup
XM_011532800.1:c.-38+167_-38+172dup XP_011531102.1:n.-38+167_-38+172dup
XM_024452819.1:c.165_170dup XP_024308587.1:p.Pro57_Arg58insGlyPro
XM_024452822.1:c.-572_-567dup XP_024308590.1:n.-572_-567dup
NM_000179.3:c.165_170dup MANE Select NP_000170.1:p.Pro57_Arg58insGlyPro
NM_001281492.2:c.165_170dup NP_001268421.1:p.Pro57_Arg58insGlyPro
NM_001281493.2:c.-572_-567dup NP_001268422.1:n.-572_-567dup