Canonical Allele Identifier: CA2499216694
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049248
ClinVar RCV Id: RCV001355122
dbSNP Id: rs2125879720

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025635_37026008del , CM000665.2:g.37025635_37026008del GRCh38
NC_000003.11:g.37067126_37067499del , CM000665.1:g.37067126_37067499del GRCh37
NC_000003.10:g.37042130_37042503del NCBI36
NG_007109.2:g.37286_37659del , LRG_216:g.37286_37659del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1039-2_1409+1del
ENST00000429117.6:c.745-2_1115+1del
ENST00000450420.6:c.1039-2_1409+1del
ENST00000456676.7:c.1039-2_1409+1del
ENST00000458009.6:c.885-2_*310+1del
ENST00000492474.6:c.316-2_686+1del
ENST00000616768.6:c.1039-2_1409+1del
ENST00000673673.2:c.1039-2_1409+1del
ENST00000231790.8:c.1039-2_1409+1del
ENST00000413212.2:c.68-2_*327+1del
ENST00000432299.6:c.*871-2_*1241+1del
ENST00000441265.6:c.316-2_686+1del
ENST00000442249.6:n.847-2_1218del
ENST00000447829.6:c.*150-2_*520+1del
ENST00000539477.6:c.316-2_686+1del
ENST00000616768.5:c.76-2_446+1del
ENST00000673673.1:c.992-2_1362+1del
ENST00000673713.1:n.1163-2_1534del
ENST00000673715.1:c.1039-2_1409+1del
ENST00000673889.1:n.421-2_791+1del
ENST00000673897.1:c.*831-2_*1201+1del
ENST00000673899.1:c.678-3149_678-2776del ENSP00000501030.1:n.678-3149_678-2776del
ENST00000673947.1:c.*1179-2_*1549+1del
ENST00000673972.1:c.*917-2_*1287+1del
ENST00000673990.1:n.930-2_1300+1del
ENST00000674019.1:c.316-2_686+1del
ENST00000674107.1:n.887-2_1257+1del
ENST00000674111.1:c.1039-2_1409+1del
ENST00000231790.6:c.1039-2_1409+1del
ENST00000413212.1:c.114-2_484+1del
ENST00000435176.5:c.745-2_1115+1del
ENST00000455445.6:c.316-2_686+1del
ENST00000456676.6:c.1014-2_1384+1del
ENST00000458009.5:c.226-2_596+1del
ENST00000458205.6:c.316-2_686+1del
ENST00000536378.5:c.316-2_686+1del
ENST00000539477.5:c.316-2_686+1del
NM_000249.3:c.1039-2_1409+1del , LRG_216t1:c.1039-2_1409+1del
NM_001167617.1:c.745-2_1115+1del
NM_001167618.1:c.316-2_686+1del
NM_001167619.1:c.316-2_686+1del
NM_001258271.1:c.1039-2_1409+1del
NM_001258273.1:c.316-2_686+1del
NM_001258274.1:c.316-2_686+1del
XM_005265161.1:c.832-2_1202+1del
XM_005265163.1:c.316-2_686+1del
XM_005265164.1:c.316-2_686+1del
XM_005265166.1:c.16-2_386+1del
XM_011533727.1:c.-36-2_335+1del
NM_001167617.2:c.745-2_1115+1del
NM_001167618.2:c.316-2_686+1del
NM_001167619.2:c.316-2_686+1del
NM_001258274.2:c.316-2_686+1del
NM_001354615.1:c.316-2_686+1del
NM_001354616.1:c.316-2_686+1del
NM_001354617.1:c.316-2_686+1del
NM_001354618.1:c.316-2_686+1del
NM_001354619.1:c.316-2_686+1del
NM_001354620.1:c.745-2_1115+1del
NM_001354621.1:c.16-2_386+1del
NM_001354622.1:c.16-2_386+1del
NM_001354623.1:c.16-2_386+1del
NM_001354624.1:c.-36-2_335+1del
NM_001354625.1:c.-36-2_335+1del
NM_001354626.1:c.-36-2_335+1del
NM_001354627.1:c.-36-2_335+1del
NM_001354628.1:c.1039-2_1409+1del
NM_001354629.1:c.940-2_1310+1del
NM_001354630.1:c.1039-2_1409+1del
XM_005265161.2:c.832-2_1202+1del
XM_017006450.2:c.16-2_386+1del
NM_000249.4:c.1039-2_1409+1del
NM_001167617.3:c.745-2_1115+1del
NM_001167618.3:c.316-2_686+1del
NM_001167619.3:c.316-2_686+1del
NM_001258271.2:c.1039-2_1409+1del
NM_001258273.2:c.316-2_686+1del
NM_001258274.3:c.316-2_686+1del
NM_001354615.2:c.316-2_686+1del
NM_001354616.2:c.316-2_686+1del
NM_001354617.2:c.316-2_686+1del
NM_001354618.2:c.316-2_686+1del
NM_001354619.2:c.316-2_686+1del
NM_001354620.2:c.745-2_1115+1del
NM_001354621.2:c.16-2_386+1del
NM_001354622.2:c.16-2_386+1del
NM_001354623.2:c.16-2_386+1del
NM_001354624.2:c.-36-2_335+1del
NM_001354625.2:c.-36-2_335+1del
NM_001354626.2:c.-36-2_335+1del
NM_001354627.2:c.-36-2_335+1del
NM_001354628.2:c.1039-2_1409+1del
NM_001354629.2:c.940-2_1310+1del
NM_001354630.2:c.1039-2_1409+1del