Canonical Allele Identifier: CA009238
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89224
dbSNP Id: rs63750735

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799789_47799792del , CM000664.2:g.47799789_47799792del GRCh38
NC_000002.11:g.48026928_48026931del , CM000664.1:g.48026928_48026931del GRCh37
NC_000002.10:g.47880432_47880435del NCBI36
NG_007111.1:g.21643_21646del , LRG_219:g.21643_21646del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1806_1809del MANE Select ENSP00000234420.5:p.Glu604LeufsTer5
ENST00000540021.6:c.1416_1419del ENSP00000446475.1:p.Glu474LeufsTer5
ENST00000652107.1:c.1509_1512del ENSP00000498629.1:p.Glu505LeufsTer5
ENST00000673637.1:c.1509_1512del ENSP00000501310.1:p.Glu505LeufsTer5
ENST00000234420.9:c.1806_1809del ENSP00000234420.4:p.Glu604LeufsTer5
ENST00000405808.5:c.169+8403_169+8406del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8202_*124+8205del ENSP00000402692.1:p.=
ENST00000445503.5:c.*1153_*1156del ENSP00000405294.1:p.=
ENST00000538136.1:c.900_903del ENSP00000438580.1:p.Glu302LeufsTer5
ENST00000540021.5:c.1416_1419del ENSP00000446475.1:p.Glu474LeufsTer5
ENST00000614496.4:c.900_903del ENSP00000477844.1:p.Glu302LeufsTer5
ENST00000616033.4:c.1803_1806del ENSP00000480261.1:p.Glu603LeufsTer5
ENST00000622629.4:c.-1291_-1288del ENSP00000482078.1:p.=
NM_000179.2:c.1806_1809del , LRG_219t1:c.1806_1809del NP_000170.1:p.Glu604LeufsTer5
NM_001281492.1:c.1416_1419del NP_001268421.1:p.Glu474LeufsTer5
NM_001281493.1:c.900_903del NP_001268422.1:p.Glu302LeufsTer5
NM_001281494.1:c.900_903del NP_001268423.1:p.Glu302LeufsTer5
XM_005264271.1:c.1509_1512del XP_005264328.1:p.Glu505LeufsTer5
XM_011532798.1:c.1623_1626del XP_011531100.1:p.Glu543LeufsTer5
XM_011532799.1:c.1509_1512del XP_011531101.1:p.Glu505LeufsTer5
XM_011532800.1:c.1509_1512del XP_011531102.1:p.Glu505LeufsTer5
XM_024452819.1:c.1806_1809del XP_024308587.1:p.Glu604LeufsTer5
XM_024452820.1:c.1623_1626del XP_024308588.1:p.Glu543LeufsTer5
XM_024452821.1:c.1509_1512del XP_024308589.1:p.Glu505LeufsTer5
XM_024452822.1:c.900_903del XP_024308590.1:p.Glu302LeufsTer5
NM_000179.3:c.1806_1809del MANE Select NP_000170.1:p.Glu604LeufsTer5
NM_001281492.2:c.1416_1419del NP_001268421.1:p.Glu474LeufsTer5
NM_001281493.2:c.900_903del NP_001268422.1:p.Glu302LeufsTer5
NM_001281494.2:c.900_903del NP_001268423.1:p.Glu302LeufsTer5