Canonical Allele Identifier: CA2580066978
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1765431
ClinVar RCV Id: RCV002376354

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783323_47783338del , CM000664.2:g.47783323_47783338del GRCh38
NC_000002.11:g.48010462_48010477del , CM000664.1:g.48010462_48010477del GRCh37
NC_000002.10:g.47863966_47863981del NCBI36
NG_007111.1:g.5177_5192del , LRG_219:g.5177_5192del

Transcript Alleles

HGVS Amino-acid change
ENST00000700004.2:c.90_105del ENSP00000514752.2:p.Gly31LeufsTer?
ENST00000699999.1:n.174_189del
ENST00000700000.1:c.90_105del ENSP00000514749.1:p.Gly31LeufsTer?
ENST00000700001.1:n.162_177del
ENST00000700002.1:c.90_105del ENSP00000514750.1:p.Gly31LeufsTer?
ENST00000700003.1:c.90_105del ENSP00000514751.1:p.Gly31LeufsTer?
ENST00000234420.11:c.90_105del MANE Select ENSP00000234420.5:p.Gly31LeufsTer?
ENST00000540021.6:c.90_105del ENSP00000446475.1:p.Gly31LeufsTer?
ENST00000652107.1:c.-37-7604_-37-7589del ENSP00000498629.1:n.-37-7604_-37-7589del
ENST00000673637.1:c.-38+92_-38+107del ENSP00000501310.1:n.-38+92_-38+107del
ENST00000673922.1:n.179_194del
ENST00000234420.9:c.90_105del ENSP00000234420.4:p.Gly31LeufsTer?
ENST00000445503.5:c.90_105del ENSP00000405294.1:p.Gly31LeufsTer?
ENST00000456246.1:c.90_105del ENSP00000410570.1:p.Gly31LeufsTer?
ENST00000493177.1:n.154_169del
ENST00000540021.5:c.90_105del ENSP00000446475.1:p.Gly31LeufsTer?
ENST00000606499.1:c.-37-7604_-37-7589del ENSP00000475605.1:n.-37-7604_-37-7589del
ENST00000614496.4:c.-647_-632del ENSP00000477844.1:n.-647_-632del
ENST00000616033.4:c.90_103del
ENST00000622629.4:c.-3007_-2992del ENSP00000482078.1:n.-3007_-2992del
NM_000179.2:c.90_105del , LRG_219t1:c.90_105del NP_000170.1:p.Gly31LeufsTer?
NM_001281492.1:c.90_105del NP_001268421.1:p.Gly31LeufsTer?
NM_001281493.1:c.-647_-632del NP_001268422.1:n.-647_-632del
XM_011532800.1:c.-38+92_-38+107del XP_011531102.1:n.-38+92_-38+107del
XM_024452819.1:c.90_105del XP_024308587.1:p.Gly31LeufsTer?
XM_024452822.1:c.-647_-632del XP_024308590.1:n.-647_-632del
NM_000179.3:c.90_105del MANE Select NP_000170.1:p.Gly31LeufsTer?
NM_001281492.2:c.90_105del NP_001268421.1:p.Gly31LeufsTer?
NM_001281493.2:c.-647_-632del NP_001268422.1:n.-647_-632del