Canonical Allele Identifier: CA008276
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89178
dbSNP Id: rs63750439

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47799173_47799174del , CM000664.2:g.47799173_47799174del GRCh38
NC_000002.11:g.48026312_48026313del , CM000664.1:g.48026312_48026313del GRCh37
NC_000002.10:g.47879816_47879817del NCBI36
NG_007111.1:g.21027_21028del , LRG_219:g.21027_21028del

Transcript Alleles

HGVS Amino-acid change
ENST00000234420.11:c.1190_1191del MANE Select ENSP00000234420.5:p.Tyr397CysfsTer3
ENST00000540021.6:c.800_801del ENSP00000446475.1:p.Tyr267CysfsTer3
ENST00000652107.1:c.893_894del ENSP00000498629.1:p.Tyr298CysfsTer3
ENST00000673637.1:c.893_894del ENSP00000501310.1:p.Tyr298CysfsTer3
ENST00000234420.9:c.1190_1191del ENSP00000234420.4:p.Tyr397CysfsTer3
ENST00000405808.5:c.169+9022_169+9023del ENSP00000385127.1:p.=
ENST00000434234.5:c.*124+8821_*124+8822del ENSP00000402692.1:p.=
ENST00000445503.5:c.*537_*538del ENSP00000405294.1:p.=
ENST00000538136.1:c.284_285del ENSP00000438580.1:p.Tyr95CysfsTer3
ENST00000540021.5:c.800_801del ENSP00000446475.1:p.Tyr267CysfsTer3
ENST00000614496.4:c.284_285del ENSP00000477844.1:p.Tyr95CysfsTer3
ENST00000616033.4:c.1187_1188del ENSP00000480261.1:p.Tyr396CysfsTer3
ENST00000622629.4:c.-1907_-1906del ENSP00000482078.1:p.=
NM_000179.2:c.1190_1191del , LRG_219t1:c.1190_1191del NP_000170.1:p.Tyr397CysfsTer3
NM_001281492.1:c.800_801del NP_001268421.1:p.Tyr267CysfsTer3
NM_001281493.1:c.284_285del NP_001268422.1:p.Tyr95CysfsTer3
NM_001281494.1:c.284_285del NP_001268423.1:p.Tyr95CysfsTer3
XM_005264271.1:c.893_894del XP_005264328.1:p.Tyr298CysfsTer3
XM_011532798.1:c.1007_1008del XP_011531100.1:p.Tyr336CysfsTer3
XM_011532799.1:c.893_894del XP_011531101.1:p.Tyr298CysfsTer3
XM_011532800.1:c.893_894del XP_011531102.1:p.Tyr298CysfsTer3
XM_024452819.1:c.1190_1191del XP_024308587.1:p.Tyr397CysfsTer3
XM_024452820.1:c.1007_1008del XP_024308588.1:p.Tyr336CysfsTer3
XM_024452821.1:c.893_894del XP_024308589.1:p.Tyr298CysfsTer3
XM_024452822.1:c.284_285del XP_024308590.1:p.Tyr95CysfsTer3
NM_000179.3:c.1190_1191del MANE Select NP_000170.1:p.Tyr397CysfsTer3
NM_001281492.2:c.800_801del NP_001268421.1:p.Tyr267CysfsTer3
NM_001281493.2:c.284_285del NP_001268422.1:p.Tyr95CysfsTer3
NM_001281494.2:c.284_285del NP_001268423.1:p.Tyr95CysfsTer3