Canonical Allele Identifier: CA2580067075
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777235
ClinVar RCV Id: RCV002403643

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783398_47783407del , CM000664.2:g.47783398_47783407del GRCh38
NC_000002.11:g.48010537_48010546del , CM000664.1:g.48010537_48010546del GRCh37
NC_000002.10:g.47864041_47864050del NCBI36
NG_007111.1:g.5252_5261del , LRG_219:g.5252_5261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.165_174del ENSP00000514752.2:p.Gly56ProfsTer22
ENST00000699999.1:n.249_258del
ENST00000700000.1:c.165_174del ENSP00000514749.1:p.Gly56ProfsTer22
ENST00000700001.1:n.237_246del
ENST00000700002.1:c.165_174del ENSP00000514750.1:p.Gly56ProfsTer22
ENST00000700003.1:c.165_174del ENSP00000514751.1:p.Gly56ProfsTer22
ENST00000234420.11:c.165_174del MANE Select ENSP00000234420.5:p.Gly56ProfsTer22
ENST00000540021.6:c.165_174del ENSP00000446475.1:p.Gly56ProfsTer22
ENST00000652107.1:c.-37-7529_-37-7520del ENSP00000498629.1:n.-37-7529_-37-7520del
ENST00000673637.1:c.-38+167_-38+176del ENSP00000501310.1:n.-38+167_-38+176del
ENST00000673922.1:n.254_263del
ENST00000234420.9:c.165_174del ENSP00000234420.4:p.Gly56ProfsTer22
ENST00000445503.5:c.165_174del ENSP00000405294.1:p.Gly56ProfsTer22
ENST00000456246.1:c.165_174del ENSP00000410570.1:p.Gly56ProfsTer22
ENST00000493177.1:n.229_238del
ENST00000540021.5:c.165_174del ENSP00000446475.1:p.Gly56ProfsTer22
ENST00000606499.1:c.-37-7529_-37-7520del ENSP00000475605.1:n.-37-7529_-37-7520del
ENST00000614496.4:c.-572_-563del ENSP00000477844.1:n.-572_-563del
ENST00000616033.4:c.163_171del
ENST00000622629.4:c.-2932_-2923del ENSP00000482078.1:n.-2932_-2923del
NM_000179.2:c.165_174del , LRG_219t1:c.165_174del NP_000170.1:p.Gly56ProfsTer22
NM_001281492.1:c.165_174del NP_001268421.1:p.Gly56ProfsTer22
NM_001281493.1:c.-572_-563del NP_001268422.1:n.-572_-563del
XM_011532800.1:c.-38+167_-38+176del XP_011531102.1:n.-38+167_-38+176del
XM_024452819.1:c.165_174del XP_024308587.1:p.Gly56ProfsTer22
XM_024452822.1:c.-572_-563del XP_024308590.1:n.-572_-563del
NM_000179.3:c.165_174del MANE Select NP_000170.1:p.Gly56ProfsTer22
NM_001281492.2:c.165_174del NP_001268421.1:p.Gly56ProfsTer22
NM_001281493.2:c.-572_-563del NP_001268422.1:n.-572_-563del