Canonical Allele Identifier: CA330649
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89624
ClinVar RCV Id: RCV000075093

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37024963_37026034del , CM000665.2:g.37024963_37026034del GRCh38
NC_000003.11:g.37066454_37067525del , CM000665.1:g.37066454_37067525del GRCh37
NC_000003.10:g.37041458_37042529del NCBI36
NG_007109.2:g.36614_37685del , LRG_216:g.36614_37685del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1039-674_1409+27del
ENST00000429117.6:c.745-674_1115+27del
ENST00000450420.6:c.1039-674_1409+27del
ENST00000456676.7:c.1039-674_1409+27del
ENST00000458009.6:c.885-674_*310+27del
ENST00000492474.6:c.316-674_686+27del
ENST00000616768.6:c.1039-674_1409+27del
ENST00000673673.2:c.1039-674_1409+27del
ENST00000231790.8:c.1039-674_1409+27del
ENST00000413212.2:c.68-674_*327+27del
ENST00000432299.6:c.*871-674_*1241+27del
ENST00000441265.6:c.316-674_686+27del
ENST00000442249.6:n.847-674_1244del
ENST00000447829.6:c.*150-674_*520+27del
ENST00000539477.6:c.316-674_686+27del
ENST00000616768.5:c.76-674_446+27del
ENST00000673673.1:c.992-674_1362+27del
ENST00000673713.1:n.1163-674_1560del
ENST00000673715.1:c.1039-674_1409+27del
ENST00000673889.1:n.421-674_791+27del
ENST00000673897.1:c.*831-674_*1201+27del
ENST00000673899.1:c.678-3821_678-2750del ENSP00000501030.1:n.678-3821_678-2750del
ENST00000673947.1:c.*1179-674_*1549+27del
ENST00000673972.1:c.*917-674_*1287+27del
ENST00000673990.1:n.930-674_1300+27del
ENST00000674019.1:c.316-674_686+27del
ENST00000674107.1:n.887-674_1257+27del
ENST00000674111.1:c.1039-674_1409+27del
ENST00000231790.6:c.1039-674_1409+27del
ENST00000413212.1:c.114-674_484+27del
ENST00000435176.5:c.745-674_1115+27del
ENST00000455445.6:c.316-674_686+27del
ENST00000456676.6:c.1014-674_1384+27del
ENST00000458009.5:c.226-674_596+27del
ENST00000458205.6:c.316-674_686+27del
ENST00000536378.5:c.316-674_686+27del
ENST00000539477.5:c.316-674_686+27del
NM_000249.3:c.1039-674_1409+27del , LRG_216t1:c.1039-674_1409+27del
NM_001167617.1:c.745-674_1115+27del
NM_001167618.1:c.316-674_686+27del
NM_001167619.1:c.316-674_686+27del
NM_001258271.1:c.1039-674_1409+27del
NM_001258273.1:c.316-674_686+27del
NM_001258274.1:c.316-674_686+27del
XM_005265161.1:c.832-674_1202+27del
XM_005265163.1:c.316-674_686+27del
XM_005265164.1:c.316-674_686+27del
XM_005265166.1:c.16-674_386+27del
XM_011533727.1:c.-36-674_335+27del
NM_001167617.2:c.745-674_1115+27del
NM_001167618.2:c.316-674_686+27del
NM_001167619.2:c.316-674_686+27del
NM_001258274.2:c.316-674_686+27del
NM_001354615.1:c.316-674_686+27del
NM_001354616.1:c.316-674_686+27del
NM_001354617.1:c.316-674_686+27del
NM_001354618.1:c.316-674_686+27del
NM_001354619.1:c.316-674_686+27del
NM_001354620.1:c.745-674_1115+27del
NM_001354621.1:c.16-674_386+27del
NM_001354622.1:c.16-674_386+27del
NM_001354623.1:c.16-674_386+27del
NM_001354624.1:c.-36-674_335+27del
NM_001354625.1:c.-36-674_335+27del
NM_001354626.1:c.-36-674_335+27del
NM_001354627.1:c.-36-674_335+27del
NM_001354628.1:c.1039-674_1409+27del
NM_001354629.1:c.940-674_1310+27del
NM_001354630.1:c.1039-674_1409+27del
XM_005265161.2:c.832-674_1202+27del
XM_017006450.2:c.16-674_386+27del
NM_000249.4:c.1039-674_1409+27del
NM_001167617.3:c.745-674_1115+27del
NM_001167618.3:c.316-674_686+27del
NM_001167619.3:c.316-674_686+27del
NM_001258271.2:c.1039-674_1409+27del
NM_001258273.2:c.316-674_686+27del
NM_001258274.3:c.316-674_686+27del
NM_001354615.2:c.316-674_686+27del
NM_001354616.2:c.316-674_686+27del
NM_001354617.2:c.316-674_686+27del
NM_001354618.2:c.316-674_686+27del
NM_001354619.2:c.316-674_686+27del
NM_001354620.2:c.745-674_1115+27del
NM_001354621.2:c.16-674_386+27del
NM_001354622.2:c.16-674_386+27del
NM_001354623.2:c.16-674_386+27del
NM_001354624.2:c.-36-674_335+27del
NM_001354625.2:c.-36-674_335+27del
NM_001354626.2:c.-36-674_335+27del
NM_001354627.2:c.-36-674_335+27del
NM_001354628.2:c.1039-674_1409+27del
NM_001354629.2:c.940-674_1310+27del
NM_001354630.2:c.1039-674_1409+27del