Canonical Allele Identifier: CA2580069695
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1772008
ClinVar RCV Id: RCV002389485
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37028762_37028781delinsA , CM000665.2:g.37028762_37028781delinsA GRCh38
NC_000003.11:g.37070253_37070272delinsA , CM000665.1:g.37070253_37070272delinsA GRCh37
NC_000003.10:g.37045257_37045276delinsA NCBI36
NG_007109.2:g.40413_40432delinsA , LRG_216:g.40413_40432delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1410-22_1410-3delinsA ENSP00000416476.2:n.1410-22_1410-3delinsA
ENST00000429117.6:c.1116-22_1116-3delinsA ENSP00000407019.2:n.1116-22_1116-3delinsA
ENST00000450420.6:c.1410-22_1410-3delinsA ENSP00000393006.2:n.1410-22_1410-3delinsA
ENST00000456676.7:c.1410-22_1410-3delinsA ENSP00000416687.3:n.1410-22_1410-3delinsA
ENST00000458009.6:c.*311-22_*311-3delinsA ENSP00000411066.2:n.*311-22_*311-3delinsA
ENST00000492474.6:c.687-22_687-3delinsA ENSP00000518393.1:n.687-22_687-3delinsA
ENST00000616768.6:c.1410-22_1410-3delinsA ENSP00000480669.3:n.1410-22_1410-3delinsA
ENST00000673673.2:c.1410-22_1410-3delinsA ENSP00000500979.2:n.1410-22_1410-3delinsA
ENST00000231790.8:c.1410-22_1410-3delinsA MANE Select ENSP00000231790.3:n.1410-22_1410-3delinsA
ENST00000413212.2:c.*328-22_*328-3delinsA ENSP00000400844.2:n.*328-22_*328-3delinsA
ENST00000432299.6:c.*1242-22_*1242-3delinsA ENSP00000416783.1:n.*1242-22_*1242-3delinsA
ENST00000441265.6:c.687-22_687-3delinsA ENSP00000398392.2:n.687-22_687-3delinsA
ENST00000447829.6:c.*521-22_*521-3delinsA ENSP00000399329.2:n.*521-22_*521-3delinsA
ENST00000539477.6:c.687-22_687-3delinsA ENSP00000443665.1:n.687-22_687-3delinsA
ENST00000616768.5:c.447-22_447-3delinsA ENSP00000480669.2:n.447-22_447-3delinsA
ENST00000673673.1:c.1363-22_1363-3delinsA
ENST00000673715.1:c.1410-22_1410-3delinsA ENSP00000501301.1:n.1410-22_1410-3delinsA
ENST00000673889.1:n.792-22_792-3delinsA
ENST00000673897.1:c.*1202-22_*1202-3delinsA ENSP00000501109.1:n.*1202-22_*1202-3delinsA
ENST00000673899.1:c.678-22_678-3delinsA ENSP00000501030.1:n.678-22_678-3delinsA
ENST00000673947.1:c.*1550-22_*1550-3delinsA ENSP00000501304.1:n.*1550-22_*1550-3delinsA
ENST00000673972.1:c.*1288-22_*1288-3delinsA ENSP00000501281.1:n.*1288-22_*1288-3delinsA
ENST00000673990.1:n.1301-22_1301-3delinsA
ENST00000674019.1:c.687-22_687-3delinsA ENSP00000501081.1:n.687-22_687-3delinsA
ENST00000674107.1:n.1258-22_1258-3delinsA
ENST00000674111.1:c.1410-22_1410-3delinsA ENSP00000501162.1:n.1410-22_1410-3delinsA
ENST00000674125.1:n.99_118delinsA
ENST00000231790.6:c.1410-22_1410-3delinsA ENSP00000231790.2:n.1410-22_1410-3delinsA
ENST00000413212.1:c.485-22_485-3delinsA
ENST00000413740.1:c.33-22_33-3delinsA ENSP00000416476.1:n.33-22_33-3delinsA
ENST00000435176.5:c.1116-22_1116-3delinsA ENSP00000402564.1:n.1116-22_1116-3delinsA
ENST00000450420.5:c.33-22_33-3delinsA ENSP00000393006.1:n.33-22_33-3delinsA
ENST00000455445.6:c.687-22_687-3delinsA ENSP00000398272.2:n.687-22_687-3delinsA
ENST00000456676.6:c.1385-22_1385-3delinsA
ENST00000458009.5:c.597-22_597-3delinsA
ENST00000458205.6:c.687-22_687-3delinsA ENSP00000402667.2:n.687-22_687-3delinsA
ENST00000536378.5:c.687-22_687-3delinsA ENSP00000444286.2:n.687-22_687-3delinsA
ENST00000539477.5:c.687-22_687-3delinsA ENSP00000443665.1:n.687-22_687-3delinsA
ENST00000616768.4:c.178-22_178-3delinsA
NM_000249.3:c.1410-22_1410-3delinsA , LRG_216t1:c.1410-22_1410-3delinsA NP_000240.1:n.1410-22_1410-3delinsA
NM_001167617.1:c.1116-22_1116-3delinsA NP_001161089.1:n.1116-22_1116-3delinsA
NM_001167618.1:c.687-22_687-3delinsA NP_001161090.1:n.687-22_687-3delinsA
NM_001167619.1:c.687-22_687-3delinsA NP_001161091.1:n.687-22_687-3delinsA
NM_001258271.1:c.1410-22_1410-3delinsA NP_001245200.1:n.1410-22_1410-3delinsA
NM_001258273.1:c.687-22_687-3delinsA NP_001245202.1:n.687-22_687-3delinsA
NM_001258274.1:c.687-22_687-3delinsA NP_001245203.1:n.687-22_687-3delinsA
XM_005265161.1:c.1203-22_1203-3delinsA XP_005265218.1:n.1203-22_1203-3delinsA
XM_005265163.1:c.687-22_687-3delinsA XP_005265220.1:n.687-22_687-3delinsA
XM_005265164.1:c.687-22_687-3delinsA XP_005265221.1:n.687-22_687-3delinsA
XM_005265166.1:c.387-22_387-3delinsA XP_005265223.1:n.387-22_387-3delinsA
XM_011533727.1:c.336-22_336-3delinsA XP_011532029.1:n.336-22_336-3delinsA
NM_001167617.2:c.1116-22_1116-3delinsA NP_001161089.1:n.1116-22_1116-3delinsA
NM_001167618.2:c.687-22_687-3delinsA NP_001161090.1:n.687-22_687-3delinsA
NM_001167619.2:c.687-22_687-3delinsA NP_001161091.1:n.687-22_687-3delinsA
NM_001258274.2:c.687-22_687-3delinsA NP_001245203.1:n.687-22_687-3delinsA
NM_001354615.1:c.687-22_687-3delinsA NP_001341544.1:n.687-22_687-3delinsA
NM_001354616.1:c.687-22_687-3delinsA NP_001341545.1:n.687-22_687-3delinsA
NM_001354617.1:c.687-22_687-3delinsA NP_001341546.1:n.687-22_687-3delinsA
NM_001354618.1:c.687-22_687-3delinsA NP_001341547.1:n.687-22_687-3delinsA
NM_001354619.1:c.687-22_687-3delinsA NP_001341548.1:n.687-22_687-3delinsA
NM_001354620.1:c.1116-22_1116-3delinsA NP_001341549.1:n.1116-22_1116-3delinsA
NM_001354621.1:c.387-22_387-3delinsA NP_001341550.1:n.387-22_387-3delinsA
NM_001354622.1:c.387-22_387-3delinsA NP_001341551.1:n.387-22_387-3delinsA
NM_001354623.1:c.387-22_387-3delinsA NP_001341552.1:n.387-22_387-3delinsA
NM_001354624.1:c.336-22_336-3delinsA NP_001341553.1:n.336-22_336-3delinsA
NM_001354625.1:c.336-22_336-3delinsA NP_001341554.1:n.336-22_336-3delinsA
NM_001354626.1:c.336-22_336-3delinsA NP_001341555.1:n.336-22_336-3delinsA
NM_001354627.1:c.336-22_336-3delinsA NP_001341556.1:n.336-22_336-3delinsA
NM_001354628.1:c.1410-22_1410-3delinsA NP_001341557.1:n.1410-22_1410-3delinsA
NM_001354629.1:c.1311-22_1311-3delinsA NP_001341558.1:n.1311-22_1311-3delinsA
NM_001354630.1:c.1410-22_1410-3delinsA NP_001341559.1:n.1410-22_1410-3delinsA
XM_005265161.2:c.1203-22_1203-3delinsA XP_005265218.1:n.1203-22_1203-3delinsA
XM_017006450.2:c.387-22_387-3delinsA XP_016861939.1:n.387-22_387-3delinsA
NM_000249.4:c.1410-22_1410-3delinsA MANE Select NP_000240.1:n.1410-22_1410-3delinsA
NM_001167617.3:c.1116-22_1116-3delinsA NP_001161089.1:n.1116-22_1116-3delinsA
NM_001167618.3:c.687-22_687-3delinsA NP_001161090.1:n.687-22_687-3delinsA
NM_001167619.3:c.687-22_687-3delinsA NP_001161091.1:n.687-22_687-3delinsA
NM_001258271.2:c.1410-22_1410-3delinsA NP_001245200.1:n.1410-22_1410-3delinsA
NM_001258273.2:c.687-22_687-3delinsA NP_001245202.1:n.687-22_687-3delinsA
NM_001258274.3:c.687-22_687-3delinsA NP_001245203.1:n.687-22_687-3delinsA
NM_001354615.2:c.687-22_687-3delinsA NP_001341544.1:n.687-22_687-3delinsA
NM_001354616.2:c.687-22_687-3delinsA NP_001341545.1:n.687-22_687-3delinsA
NM_001354617.2:c.687-22_687-3delinsA NP_001341546.1:n.687-22_687-3delinsA
NM_001354618.2:c.687-22_687-3delinsA NP_001341547.1:n.687-22_687-3delinsA
NM_001354619.2:c.687-22_687-3delinsA NP_001341548.1:n.687-22_687-3delinsA
NM_001354620.2:c.1116-22_1116-3delinsA NP_001341549.1:n.1116-22_1116-3delinsA
NM_001354621.2:c.387-22_387-3delinsA NP_001341550.1:n.387-22_387-3delinsA
NM_001354622.2:c.387-22_387-3delinsA NP_001341551.1:n.387-22_387-3delinsA
NM_001354623.2:c.387-22_387-3delinsA NP_001341552.1:n.387-22_387-3delinsA
NM_001354624.2:c.336-22_336-3delinsA NP_001341553.1:n.336-22_336-3delinsA
NM_001354625.2:c.336-22_336-3delinsA NP_001341554.1:n.336-22_336-3delinsA
NM_001354626.2:c.336-22_336-3delinsA NP_001341555.1:n.336-22_336-3delinsA
NM_001354627.2:c.336-22_336-3delinsA NP_001341556.1:n.336-22_336-3delinsA
NM_001354628.2:c.1410-22_1410-3delinsA NP_001341557.1:n.1410-22_1410-3delinsA
NM_001354629.2:c.1311-22_1311-3delinsA NP_001341558.1:n.1311-22_1311-3delinsA
NM_001354630.2:c.1410-22_1410-3delinsA NP_001341559.1:n.1410-22_1410-3delinsA
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