Canonical Allele Identifier: CA1357887395
Gene: MLH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37040417_37040419delinsCAT , CM000665.2:g.37040417_37040419delinsCAT GRCh38
NC_000003.11:g.37081908_37081910delinsCAT , CM000665.1:g.37081908_37081910delinsCAT GRCh37
NC_000003.10:g.37056912_37056914delinsCAT NCBI36
NG_007109.2:g.52068_52070delinsCAT , LRG_216:g.52068_52070delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1667+123_1667+125delinsCAT ENSP00000416476.2:n.1667+123_1667+125delinsCAT
ENST00000429117.6:c.1373+123_1373+125delinsCAT ENSP00000407019.2:n.1373+123_1373+125delinsCAT
ENST00000450420.6:c.1559-10069_1559-10067delinsCAT ENSP00000393006.2:n.1559-10069_1559-10067delinsCAT
ENST00000456676.7:c.1667+123_1667+125delinsCAT ENSP00000416687.3:n.1667+123_1667+125delinsCAT
ENST00000492474.6:c.944+123_944+125delinsCAT ENSP00000518393.1:n.944+123_944+125delinsCAT
ENST00000616768.6:c.1667+123_1667+125delinsCAT ENSP00000480669.3:n.1667+123_1667+125delinsCAT
ENST00000673673.2:c.1667+123_1667+125delinsCAT ENSP00000500979.2:n.1667+123_1667+125delinsCAT
ENST00000231790.8:c.1667+123_1667+125delinsCAT MANE Select ENSP00000231790.3:n.1667+123_1667+125delinsCAT
ENST00000413212.2:c.*585+123_*585+125delinsCAT ENSP00000400844.2:n.*585+123_*585+125delinsCAT
ENST00000432299.6:c.*1499+123_*1499+125delinsCAT ENSP00000416783.1:n.*1499+123_*1499+125delinsCAT
ENST00000441265.6:c.944+123_944+125delinsCAT ENSP00000398392.2:n.944+123_944+125delinsCAT
ENST00000447829.6:c.*778+123_*778+125delinsCAT ENSP00000399329.2:n.*778+123_*778+125delinsCAT
ENST00000539477.6:c.944+123_944+125delinsCAT ENSP00000443665.1:n.944+123_944+125delinsCAT
ENST00000616768.5:c.704+123_704+125delinsCAT ENSP00000480669.2:n.704+123_704+125delinsCAT
ENST00000673673.1:c.1620+123_1620+125delinsCAT
ENST00000673715.1:c.1667+123_1667+125delinsCAT ENSP00000501301.1:n.1667+123_1667+125delinsCAT
ENST00000673889.1:n.1049+123_1049+125delinsCAT
ENST00000673897.1:c.*1459+123_*1459+125delinsCAT ENSP00000501109.1:n.*1459+123_*1459+125delinsCAT
ENST00000673899.1:c.935+123_935+125delinsCAT ENSP00000501030.1:n.935+123_935+125delinsCAT
ENST00000673947.1:c.*1807+123_*1807+125delinsCAT ENSP00000501304.1:n.*1807+123_*1807+125delinsCAT
ENST00000673972.1:c.*1545+123_*1545+125delinsCAT ENSP00000501281.1:n.*1545+123_*1545+125delinsCAT
ENST00000673990.1:n.1558+123_1558+125delinsCAT
ENST00000674019.1:c.944+123_944+125delinsCAT ENSP00000501081.1:n.944+123_944+125delinsCAT
ENST00000674111.1:c.1667+123_1667+125delinsCAT ENSP00000501162.1:n.1667+123_1667+125delinsCAT
ENST00000674125.1:n.378+123_378+125delinsCAT
ENST00000231790.6:c.1667+123_1667+125delinsCAT ENSP00000231790.2:n.1667+123_1667+125delinsCAT
ENST00000413740.1:c.290+123_290+125delinsCAT ENSP00000416476.1:n.290+123_290+125delinsCAT
ENST00000435176.5:c.1373+123_1373+125delinsCAT ENSP00000402564.1:n.1373+123_1373+125delinsCAT
ENST00000450420.5:c.182-10069_182-10067delinsCAT ENSP00000393006.1:n.182-10069_182-10067delinsCAT
ENST00000455445.6:c.944+123_944+125delinsCAT ENSP00000398272.2:n.944+123_944+125delinsCAT
ENST00000456676.6:c.1642+123_1642+125delinsCAT
ENST00000458205.6:c.944+123_944+125delinsCAT ENSP00000402667.2:n.944+123_944+125delinsCAT
ENST00000536378.5:c.944+123_944+125delinsCAT ENSP00000444286.2:n.944+123_944+125delinsCAT
ENST00000539477.5:c.944+123_944+125delinsCAT ENSP00000443665.1:n.944+123_944+125delinsCAT
ENST00000616768.4:c.435+123_435+125delinsCAT
NM_000249.3:c.1667+123_1667+125delinsCAT , LRG_216t1:c.1667+123_1667+125delinsCAT NP_000240.1:n.1667+123_1667+125delinsCAT
NM_001167617.1:c.1373+123_1373+125delinsCAT NP_001161089.1:n.1373+123_1373+125delinsCAT
NM_001167618.1:c.944+123_944+125delinsCAT NP_001161090.1:n.944+123_944+125delinsCAT
NM_001167619.1:c.944+123_944+125delinsCAT NP_001161091.1:n.944+123_944+125delinsCAT
NM_001258271.1:c.1667+123_1667+125delinsCAT NP_001245200.1:n.1667+123_1667+125delinsCAT
NM_001258273.1:c.944+123_944+125delinsCAT NP_001245202.1:n.944+123_944+125delinsCAT
NM_001258274.1:c.944+123_944+125delinsCAT NP_001245203.1:n.944+123_944+125delinsCAT
XM_005265161.1:c.1460+123_1460+125delinsCAT XP_005265218.1:n.1460+123_1460+125delinsCAT
XM_005265163.1:c.944+123_944+125delinsCAT XP_005265220.1:n.944+123_944+125delinsCAT
XM_005265164.1:c.944+123_944+125delinsCAT XP_005265221.1:n.944+123_944+125delinsCAT
XM_005265166.1:c.644+123_644+125delinsCAT XP_005265223.1:n.644+123_644+125delinsCAT
XM_011533727.1:c.593+123_593+125delinsCAT XP_011532029.1:n.593+123_593+125delinsCAT
NM_001167617.2:c.1373+123_1373+125delinsCAT NP_001161089.1:n.1373+123_1373+125delinsCAT
NM_001167618.2:c.944+123_944+125delinsCAT NP_001161090.1:n.944+123_944+125delinsCAT
NM_001167619.2:c.944+123_944+125delinsCAT NP_001161091.1:n.944+123_944+125delinsCAT
NM_001258274.2:c.944+123_944+125delinsCAT NP_001245203.1:n.944+123_944+125delinsCAT
NM_001354615.1:c.944+123_944+125delinsCAT NP_001341544.1:n.944+123_944+125delinsCAT
NM_001354616.1:c.944+123_944+125delinsCAT NP_001341545.1:n.944+123_944+125delinsCAT
NM_001354617.1:c.944+123_944+125delinsCAT NP_001341546.1:n.944+123_944+125delinsCAT
NM_001354618.1:c.944+123_944+125delinsCAT NP_001341547.1:n.944+123_944+125delinsCAT
NM_001354619.1:c.944+123_944+125delinsCAT NP_001341548.1:n.944+123_944+125delinsCAT
NM_001354620.1:c.1373+123_1373+125delinsCAT NP_001341549.1:n.1373+123_1373+125delinsCAT
NM_001354621.1:c.644+123_644+125delinsCAT NP_001341550.1:n.644+123_644+125delinsCAT
NM_001354622.1:c.644+123_644+125delinsCAT NP_001341551.1:n.644+123_644+125delinsCAT
NM_001354623.1:c.644+123_644+125delinsCAT NP_001341552.1:n.644+123_644+125delinsCAT
NM_001354624.1:c.593+123_593+125delinsCAT NP_001341553.1:n.593+123_593+125delinsCAT
NM_001354625.1:c.593+123_593+125delinsCAT NP_001341554.1:n.593+123_593+125delinsCAT
NM_001354626.1:c.593+123_593+125delinsCAT NP_001341555.1:n.593+123_593+125delinsCAT
NM_001354627.1:c.593+123_593+125delinsCAT NP_001341556.1:n.593+123_593+125delinsCAT
NM_001354628.1:c.1667+123_1667+125delinsCAT NP_001341557.1:n.1667+123_1667+125delinsCAT
NM_001354629.1:c.1568+123_1568+125delinsCAT NP_001341558.1:n.1568+123_1568+125delinsCAT
NM_001354630.1:c.1667+123_1667+125delinsCAT NP_001341559.1:n.1667+123_1667+125delinsCAT
XM_005265161.2:c.1460+123_1460+125delinsCAT XP_005265218.1:n.1460+123_1460+125delinsCAT
XM_017006450.2:c.644+123_644+125delinsCAT XP_016861939.1:n.644+123_644+125delinsCAT
NM_000249.4:c.1667+123_1667+125delinsCAT MANE Select NP_000240.1:n.1667+123_1667+125delinsCAT
NM_001167617.3:c.1373+123_1373+125delinsCAT NP_001161089.1:n.1373+123_1373+125delinsCAT
NM_001167618.3:c.944+123_944+125delinsCAT NP_001161090.1:n.944+123_944+125delinsCAT
NM_001167619.3:c.944+123_944+125delinsCAT NP_001161091.1:n.944+123_944+125delinsCAT
NM_001258271.2:c.1667+123_1667+125delinsCAT NP_001245200.1:n.1667+123_1667+125delinsCAT
NM_001258273.2:c.944+123_944+125delinsCAT NP_001245202.1:n.944+123_944+125delinsCAT
NM_001258274.3:c.944+123_944+125delinsCAT NP_001245203.1:n.944+123_944+125delinsCAT
NM_001354615.2:c.944+123_944+125delinsCAT NP_001341544.1:n.944+123_944+125delinsCAT
NM_001354616.2:c.944+123_944+125delinsCAT NP_001341545.1:n.944+123_944+125delinsCAT
NM_001354617.2:c.944+123_944+125delinsCAT NP_001341546.1:n.944+123_944+125delinsCAT
NM_001354618.2:c.944+123_944+125delinsCAT NP_001341547.1:n.944+123_944+125delinsCAT
NM_001354619.2:c.944+123_944+125delinsCAT NP_001341548.1:n.944+123_944+125delinsCAT
NM_001354620.2:c.1373+123_1373+125delinsCAT NP_001341549.1:n.1373+123_1373+125delinsCAT
NM_001354621.2:c.644+123_644+125delinsCAT NP_001341550.1:n.644+123_644+125delinsCAT
NM_001354622.2:c.644+123_644+125delinsCAT NP_001341551.1:n.644+123_644+125delinsCAT
NM_001354623.2:c.644+123_644+125delinsCAT NP_001341552.1:n.644+123_644+125delinsCAT
NM_001354624.2:c.593+123_593+125delinsCAT NP_001341553.1:n.593+123_593+125delinsCAT
NM_001354625.2:c.593+123_593+125delinsCAT NP_001341554.1:n.593+123_593+125delinsCAT
NM_001354626.2:c.593+123_593+125delinsCAT NP_001341555.1:n.593+123_593+125delinsCAT
NM_001354627.2:c.593+123_593+125delinsCAT NP_001341556.1:n.593+123_593+125delinsCAT
NM_001354628.2:c.1667+123_1667+125delinsCAT NP_001341557.1:n.1667+123_1667+125delinsCAT
NM_001354629.2:c.1568+123_1568+125delinsCAT NP_001341558.1:n.1568+123_1568+125delinsCAT
NM_001354630.2:c.1667+123_1667+125delinsCAT NP_001341559.1:n.1667+123_1667+125delinsCAT
Search 100 bp 5'
Search 100 bp 3'