Canonical Allele Identifier: CA2499216700
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050662
ClinVar RCV Id: RCV001358360
dbSNP Id: rs2125943327

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37040182_37040357del , CM000665.2:g.37040182_37040357del GRCh38
NC_000003.11:g.37081673_37081848del , CM000665.1:g.37081673_37081848del GRCh37
NC_000003.10:g.37056677_37056852del NCBI36
NG_007109.2:g.51833_52008del , LRG_216:g.51833_52008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1559-4_1667+63del
ENST00000429117.6:c.1265-4_1373+63del
ENST00000450420.6:c.1559-10304_1559-10129del ENSP00000393006.2:n.1559-10304_1559-10129del
ENST00000456676.7:c.1559-4_1667+63del
ENST00000492474.6:c.836-4_944+63del
ENST00000616768.6:c.1559-4_1667+63del
ENST00000673673.2:c.1559-4_1667+63del
ENST00000231790.8:c.1559-4_1667+63del
ENST00000413212.2:c.*477-4_*585+63del
ENST00000432299.6:c.*1391-4_*1499+63del
ENST00000441265.6:c.836-4_944+63del
ENST00000447829.6:c.*670-4_*778+63del
ENST00000539477.6:c.836-4_944+63del
ENST00000616768.5:c.596-4_704+63del
ENST00000673673.1:c.1512-4_1620+63del
ENST00000673715.1:c.1559-4_1667+63del
ENST00000673889.1:n.941-4_1049+63del
ENST00000673897.1:c.*1351-4_*1459+63del
ENST00000673899.1:c.827-4_935+63del
ENST00000673947.1:c.*1699-4_*1807+63del
ENST00000673972.1:c.*1437-4_*1545+63del
ENST00000673990.1:n.1450-4_1558+63del
ENST00000674019.1:c.836-4_944+63del
ENST00000674111.1:c.1559-4_1667+63del
ENST00000674125.1:n.270-4_378+63del
ENST00000231790.6:c.1559-4_1667+63del
ENST00000413740.1:c.182-4_290+63del
ENST00000435176.5:c.1265-4_1373+63del
ENST00000450420.5:c.182-10304_182-10129del ENSP00000393006.1:n.182-10304_182-10129del
ENST00000455445.6:c.836-4_944+63del
ENST00000456676.6:c.1534-4_1642+63del
ENST00000458205.6:c.836-4_944+63del
ENST00000536378.5:c.836-4_944+63del
ENST00000539477.5:c.836-4_944+63del
ENST00000616768.4:c.327-4_435+63del
NM_000249.3:c.1559-4_1667+63del , LRG_216t1:c.1559-4_1667+63del
NM_001167617.1:c.1265-4_1373+63del
NM_001167618.1:c.836-4_944+63del
NM_001167619.1:c.836-4_944+63del
NM_001258271.1:c.1559-4_1667+63del
NM_001258273.1:c.836-4_944+63del
NM_001258274.1:c.836-4_944+63del
XM_005265161.1:c.1352-4_1460+63del
XM_005265163.1:c.836-4_944+63del
XM_005265164.1:c.836-4_944+63del
XM_005265166.1:c.536-4_644+63del
XM_011533727.1:c.485-4_593+63del
NM_001167617.2:c.1265-4_1373+63del
NM_001167618.2:c.836-4_944+63del
NM_001167619.2:c.836-4_944+63del
NM_001258274.2:c.836-4_944+63del
NM_001354615.1:c.836-4_944+63del
NM_001354616.1:c.836-4_944+63del
NM_001354617.1:c.836-4_944+63del
NM_001354618.1:c.836-4_944+63del
NM_001354619.1:c.836-4_944+63del
NM_001354620.1:c.1265-4_1373+63del
NM_001354621.1:c.536-4_644+63del
NM_001354622.1:c.536-4_644+63del
NM_001354623.1:c.536-4_644+63del
NM_001354624.1:c.485-4_593+63del
NM_001354625.1:c.485-4_593+63del
NM_001354626.1:c.485-4_593+63del
NM_001354627.1:c.485-4_593+63del
NM_001354628.1:c.1559-4_1667+63del
NM_001354629.1:c.1460-4_1568+63del
NM_001354630.1:c.1559-4_1667+63del
XM_005265161.2:c.1352-4_1460+63del
XM_017006450.2:c.536-4_644+63del
NM_000249.4:c.1559-4_1667+63del
NM_001167617.3:c.1265-4_1373+63del
NM_001167618.3:c.836-4_944+63del
NM_001167619.3:c.836-4_944+63del
NM_001258271.2:c.1559-4_1667+63del
NM_001258273.2:c.836-4_944+63del
NM_001258274.3:c.836-4_944+63del
NM_001354615.2:c.836-4_944+63del
NM_001354616.2:c.836-4_944+63del
NM_001354617.2:c.836-4_944+63del
NM_001354618.2:c.836-4_944+63del
NM_001354619.2:c.836-4_944+63del
NM_001354620.2:c.1265-4_1373+63del
NM_001354621.2:c.536-4_644+63del
NM_001354622.2:c.536-4_644+63del
NM_001354623.2:c.536-4_644+63del
NM_001354624.2:c.485-4_593+63del
NM_001354625.2:c.485-4_593+63del
NM_001354626.2:c.485-4_593+63del
NM_001354627.2:c.485-4_593+63del
NM_001354628.2:c.1559-4_1667+63del
NM_001354629.2:c.1460-4_1568+63del
NM_001354630.2:c.1559-4_1667+63del