Canonical Allele Identifier: CA007495
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89941
dbSNP Id: rs63750469

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996692_36996693del , CM000665.2:g.36996692_36996693del GRCh38
NC_000003.11:g.37038183_37038184del , CM000665.1:g.37038183_37038184del GRCh37
NC_000003.10:g.37013187_37013188del NCBI36
NG_007109.2:g.8343_8344del , LRG_216:g.8343_8344del
NG_008418.1:g.1612_1613del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.190_191del ENSP00000416476.2:p.Asn64TrpfsTer14
ENST00000429117.6:c.-100_-99del ENSP00000407019.2:n.-100_-99del
ENST00000450420.6:c.190_191del ENSP00000393006.2:p.Asn64TrpfsTer14
ENST00000456676.7:c.190_191del ENSP00000416687.3:p.Asn64TrpfsTer14
ENST00000458009.6:c.190_191del ENSP00000411066.2:p.Asn64TrpfsTer14
ENST00000492474.6:c.-534_-533del ENSP00000518393.1:n.-534_-533del
ENST00000616768.6:c.190_191del ENSP00000480669.3:p.Asn64TrpfsTer14
ENST00000673673.2:c.190_191del ENSP00000500979.2:p.Asn64TrpfsTer14
ENST00000231790.8:c.190_191del MANE Select ENSP00000231790.3:p.Asn64TrpfsTer14
ENST00000413212.2:c.-534_-533del ENSP00000400844.2:n.-534_-533del
ENST00000432299.6:c.*270_*271del ENSP00000416783.1:n.*270_*271del
ENST00000441265.6:c.-534_-533del ENSP00000398392.2:n.-534_-533del
ENST00000442249.6:n.205_206del
ENST00000447829.6:c.-100_-99del ENSP00000399329.2:n.-100_-99del
ENST00000476172.6:n.1120-1278_1120-1277del
ENST00000539477.6:c.-442_-441del ENSP00000443665.1:n.-442_-441del
ENST00000673673.1:c.143_144del
ENST00000673686.1:n.180_181del
ENST00000673713.1:n.221_222del
ENST00000673715.1:c.190_191del ENSP00000501301.1:p.Asn64TrpfsTer14
ENST00000673897.1:c.116+3029_116+3030del ENSP00000501109.1:n.116+3029_116+3030del
ENST00000673899.1:c.190_191del ENSP00000501030.1:p.Asn64TrpfsTer14
ENST00000673947.1:c.*330_*331del ENSP00000501304.1:n.*330_*331del
ENST00000673972.1:c.*68_*69del ENSP00000501281.1:n.*68_*69del
ENST00000673990.1:n.175_176del
ENST00000674019.1:c.-534_-533del ENSP00000501081.1:n.-534_-533del
ENST00000674107.1:n.132_133del
ENST00000674111.1:c.190_191del ENSP00000501162.1:p.Asn64TrpfsTer14
ENST00000231790.6:c.190_191del ENSP00000231790.2:p.Asn64TrpfsTer14
ENST00000429117.5:c.-100_-99del ENSP00000407019.1:n.-100_-99del
ENST00000432299.5:c.*270_*271del ENSP00000416783.1:n.*270_*271del
ENST00000435176.5:c.-100_-99del ENSP00000402564.1:n.-100_-99del
ENST00000441265.5:c.-442_-441del ENSP00000398392.1:n.-442_-441del
ENST00000442249.5:c.116+3029_116+3030del ENSP00000387511.1:n.116+3029_116+3030del
ENST00000454028.5:c.*68_*69del ENSP00000392649.1:n.*68_*69del
ENST00000455445.6:c.-534_-533del ENSP00000398272.2:n.-534_-533del
ENST00000456676.6:c.165_166del
ENST00000457004.5:c.*68_*69del ENSP00000407773.1:n.*68_*69del
ENST00000458205.6:c.-679_-678del ENSP00000402667.2:n.-679_-678del
ENST00000466900.5:n.117_118del
ENST00000476172.5:n.312_313del
ENST00000485889.1:n.194_195del
ENST00000492474.5:n.213_214del
ENST00000536378.5:c.-517+3029_-517+3030del ENSP00000444286.2:n.-517+3029_-517+3030del
ENST00000539477.5:c.-442_-441del ENSP00000443665.1:n.-442_-441del
NM_000249.3:c.190_191del , LRG_216t1:c.190_191del NP_000240.1:p.Asn64TrpfsTer14
NM_001167617.1:c.-100_-99del NP_001161089.1:n.-100_-99del
NM_001167618.1:c.-534_-533del NP_001161090.1:n.-534_-533del
NM_001167619.1:c.-442_-441del NP_001161091.1:n.-442_-441del
NM_001258271.1:c.190_191del NP_001245200.1:p.Asn64TrpfsTer14
NM_001258273.1:c.-517+3029_-517+3030del NP_001245202.1:n.-517+3029_-517+3030del
NM_001258274.1:c.-679_-678del NP_001245203.1:n.-679_-678del
XM_005265161.1:c.190_191del XP_005265218.1:p.Asn64TrpfsTer14
XM_005265163.1:c.-534_-533del XP_005265220.1:n.-534_-533del
XM_005265164.1:c.-534_-533del XP_005265221.1:n.-534_-533del
XM_005265166.1:c.-740_-739del XP_005265223.1:n.-740_-739del
XM_011533727.1:c.-637_-636del XP_011532029.1:n.-637_-636del
NM_001167617.2:c.-100_-99del NP_001161089.1:n.-100_-99del
NM_001167618.2:c.-534_-533del NP_001161090.1:n.-534_-533del
NM_001167619.2:c.-442_-441del NP_001161091.1:n.-442_-441del
NM_001258274.2:c.-679_-678del NP_001245203.1:n.-679_-678del
NM_001354615.1:c.-437_-436del NP_001341544.1:n.-437_-436del
NM_001354616.1:c.-442_-441del NP_001341545.1:n.-442_-441del
NM_001354617.1:c.-534_-533del NP_001341546.1:n.-534_-533del
NM_001354618.1:c.-534_-533del NP_001341547.1:n.-534_-533del
NM_001354619.1:c.-534_-533del NP_001341548.1:n.-534_-533del
NM_001354620.1:c.-100_-99del NP_001341549.1:n.-100_-99del
NM_001354621.1:c.-627_-626del NP_001341550.1:n.-627_-626del
NM_001354622.1:c.-740_-739del NP_001341551.1:n.-740_-739del
NM_001354623.1:c.-723+2802_-723+2803del NP_001341552.1:n.-723+2802_-723+2803del
NM_001354624.1:c.-637_-636del NP_001341553.1:n.-637_-636del
NM_001354625.1:c.-540_-539del NP_001341554.1:n.-540_-539del
NM_001354626.1:c.-637_-636del NP_001341555.1:n.-637_-636del
NM_001354627.1:c.-637_-636del NP_001341556.1:n.-637_-636del
NM_001354628.1:c.190_191del NP_001341557.1:p.Asn64TrpfsTer14
NM_001354629.1:c.190_191del NP_001341558.1:p.Asn64TrpfsTer24
NM_001354630.1:c.190_191del NP_001341559.1:p.Asn64TrpfsTer14
XM_005265161.2:c.190_191del XP_005265218.1:p.Asn64TrpfsTer14
XM_017006450.2:c.-627_-626del XP_016861939.1:n.-627_-626del
NM_000249.4:c.190_191del MANE Select NP_000240.1:p.Asn64TrpfsTer14
NM_001167617.3:c.-100_-99del NP_001161089.1:n.-100_-99del
NM_001167618.3:c.-534_-533del NP_001161090.1:n.-534_-533del
NM_001167619.3:c.-442_-441del NP_001161091.1:n.-442_-441del
NM_001258271.2:c.190_191del NP_001245200.1:p.Asn64TrpfsTer14
NM_001258273.2:c.-517+3029_-517+3030del NP_001245202.1:n.-517+3029_-517+3030del
NM_001258274.3:c.-679_-678del NP_001245203.1:n.-679_-678del
NM_001354615.2:c.-437_-436del NP_001341544.1:n.-437_-436del
NM_001354616.2:c.-442_-441del NP_001341545.1:n.-442_-441del
NM_001354617.2:c.-534_-533del NP_001341546.1:n.-534_-533del
NM_001354618.2:c.-534_-533del NP_001341547.1:n.-534_-533del
NM_001354619.2:c.-534_-533del NP_001341548.1:n.-534_-533del
NM_001354620.2:c.-100_-99del NP_001341549.1:n.-100_-99del
NM_001354621.2:c.-627_-626del NP_001341550.1:n.-627_-626del
NM_001354622.2:c.-740_-739del NP_001341551.1:n.-740_-739del
NM_001354623.2:c.-723+2802_-723+2803del NP_001341552.1:n.-723+2802_-723+2803del
NM_001354624.2:c.-637_-636del NP_001341553.1:n.-637_-636del
NM_001354625.2:c.-540_-539del NP_001341554.1:n.-540_-539del
NM_001354626.2:c.-637_-636del NP_001341555.1:n.-637_-636del
NM_001354627.2:c.-637_-636del NP_001341556.1:n.-637_-636del
NM_001354628.2:c.190_191del NP_001341557.1:p.Asn64TrpfsTer14
NM_001354629.2:c.190_191del NP_001341558.1:p.Asn64TrpfsTer24
NM_001354630.2:c.190_191del NP_001341559.1:p.Asn64TrpfsTer14