Canonical Allele Identifier: CA2580069284
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1775207
ClinVar RCV Id: RCV002405360

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37040127_37040231del , CM000665.2:g.37040127_37040231del GRCh38
NC_000003.11:g.37081618_37081722del , CM000665.1:g.37081618_37081722del GRCh37
NC_000003.10:g.37056622_37056726del NCBI36
NG_007109.2:g.51778_51882del , LRG_216:g.51778_51882del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1559-59_1604del
ENST00000429117.6:c.1265-59_1310del
ENST00000450420.6:c.1559-10359_1559-10255del ENSP00000393006.2:n.1559-10359_1559-10255del
ENST00000456676.7:c.1559-59_1604del
ENST00000492474.6:c.836-59_881del
ENST00000616768.6:c.1559-59_1604del
ENST00000673673.2:c.1559-59_1604del
ENST00000231790.8:c.1559-59_1604del
ENST00000413212.2:c.*477-59_*522del
ENST00000432299.6:c.*1391-59_*1436del
ENST00000441265.6:c.836-59_881del
ENST00000447829.6:c.*670-59_*715del
ENST00000539477.6:c.836-59_881del
ENST00000616768.5:c.596-59_641del
ENST00000673673.1:c.1512-59_1557del
ENST00000673715.1:c.1559-59_1604del
ENST00000673889.1:n.941-59_986del
ENST00000673897.1:c.*1351-59_*1396del
ENST00000673899.1:c.827-59_872del
ENST00000673947.1:c.*1699-59_*1744del
ENST00000673972.1:c.*1437-59_*1482del
ENST00000673990.1:n.1450-59_1495del
ENST00000674019.1:c.836-59_881del
ENST00000674111.1:c.1559-59_1604del
ENST00000674125.1:n.270-59_315del
ENST00000231790.6:c.1559-59_1604del
ENST00000413212.1:c.634-59_679del
ENST00000413740.1:c.182-59_227del
ENST00000435176.5:c.1265-59_1310del
ENST00000450420.5:c.182-10359_182-10255del ENSP00000393006.1:n.182-10359_182-10255del
ENST00000455445.6:c.836-59_881del
ENST00000456676.6:c.1534-59_1579del
ENST00000458205.6:c.836-59_881del
ENST00000536378.5:c.836-59_881del
ENST00000539477.5:c.836-59_881del
ENST00000616768.4:c.327-59_372del
NM_000249.3:c.1559-59_1604del , LRG_216t1:c.1559-59_1604del
NM_001167617.1:c.1265-59_1310del
NM_001167618.1:c.836-59_881del
NM_001167619.1:c.836-59_881del
NM_001258271.1:c.1559-59_1604del
NM_001258273.1:c.836-59_881del
NM_001258274.1:c.836-59_881del
XM_005265161.1:c.1352-59_1397del
XM_005265163.1:c.836-59_881del
XM_005265164.1:c.836-59_881del
XM_005265166.1:c.536-59_581del
XM_011533727.1:c.485-59_530del
NM_001167617.2:c.1265-59_1310del
NM_001167618.2:c.836-59_881del
NM_001167619.2:c.836-59_881del
NM_001258274.2:c.836-59_881del
NM_001354615.1:c.836-59_881del
NM_001354616.1:c.836-59_881del
NM_001354617.1:c.836-59_881del
NM_001354618.1:c.836-59_881del
NM_001354619.1:c.836-59_881del
NM_001354620.1:c.1265-59_1310del
NM_001354621.1:c.536-59_581del
NM_001354622.1:c.536-59_581del
NM_001354623.1:c.536-59_581del
NM_001354624.1:c.485-59_530del
NM_001354625.1:c.485-59_530del
NM_001354626.1:c.485-59_530del
NM_001354627.1:c.485-59_530del
NM_001354628.1:c.1559-59_1604del
NM_001354629.1:c.1460-59_1505del
NM_001354630.1:c.1559-59_1604del
XM_005265161.2:c.1352-59_1397del
XM_017006450.2:c.536-59_581del
NM_000249.4:c.1559-59_1604del
NM_001167617.3:c.1265-59_1310del
NM_001167618.3:c.836-59_881del
NM_001167619.3:c.836-59_881del
NM_001258271.2:c.1559-59_1604del
NM_001258273.2:c.836-59_881del
NM_001258274.3:c.836-59_881del
NM_001354615.2:c.836-59_881del
NM_001354616.2:c.836-59_881del
NM_001354617.2:c.836-59_881del
NM_001354618.2:c.836-59_881del
NM_001354619.2:c.836-59_881del
NM_001354620.2:c.1265-59_1310del
NM_001354621.2:c.536-59_581del
NM_001354622.2:c.536-59_581del
NM_001354623.2:c.536-59_581del
NM_001354624.2:c.485-59_530del
NM_001354625.2:c.485-59_530del
NM_001354626.2:c.485-59_530del
NM_001354627.2:c.485-59_530del
NM_001354628.2:c.1559-59_1604del
NM_001354629.2:c.1460-59_1505del
NM_001354630.2:c.1559-59_1604del