Canonical Allele Identifier: CA2586971988
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050547_37050550del , CM000665.2:g.37050547_37050550del GRCh38
NC_000003.11:g.37092038_37092041del , CM000665.1:g.37092038_37092041del GRCh37
NC_000003.10:g.37067042_37067045del NCBI36
NG_007109.2:g.62198_62201del , LRG_216:g.62198_62201del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1729_1732del ENSP00000416476.2:p.Lys577LeufsTer9
ENST00000429117.6:c.1871_1874del ENSP00000407019.2:p.Lys624ThrfsTer?
ENST00000456676.7:c.1958_1961del ENSP00000416687.3:p.Lys653ThrfsTer?
ENST00000492474.6:c.1442_1445del ENSP00000518393.1:p.Lys481ThrfsTer?
ENST00000616768.6:c.2072_2075del ENSP00000480669.3:p.Lys691ThrfsTer?
ENST00000673673.2:c.2000_2003del ENSP00000500979.2:p.Lys667ThrfsTer?
ENST00000231790.8:c.2165_2168del MANE Select ENSP00000231790.3:p.Lys722ThrfsTer?
ENST00000413212.2:c.*1083_*1086del ENSP00000400844.2:n.*1083_*1086del
ENST00000432299.6:c.*1997_*2000del ENSP00000416783.1:n.*1997_*2000del
ENST00000447829.6:c.*1276_*1279del ENSP00000399329.2:n.*1276_*1279del
ENST00000539477.6:c.1442_1445del ENSP00000443665.1:p.Lys481ThrfsTer?
ENST00000616768.5:c.1109_1112del ENSP00000480669.2:p.Lys370ThrfsTer?
ENST00000673673.1:c.1953_1956del
ENST00000673741.1:n.1199_1202del
ENST00000673889.1:n.1547_1550del
ENST00000673897.1:c.*1957_*1960del ENSP00000501109.1:n.*1957_*1960del
ENST00000673899.1:c.1433_1436del ENSP00000501030.1:p.Lys478ThrfsTer?
ENST00000673947.1:c.*2305_*2308del ENSP00000501304.1:n.*2305_*2308del
ENST00000673972.1:c.*2043_*2046del ENSP00000501281.1:n.*2043_*2046del
ENST00000674019.1:c.1442_1445del ENSP00000501081.1:p.Lys481ThrfsTer?
ENST00000674111.1:c.*394_*397del ENSP00000501162.1:n.*394_*397del
ENST00000674125.1:n.876_879del
ENST00000231790.6:c.2165_2168del ENSP00000231790.2:p.Lys722ThrfsTer?
ENST00000435176.5:c.1871_1874del ENSP00000402564.1:p.Lys624ThrfsTer?
ENST00000455445.6:c.1442_1445del ENSP00000398272.2:p.Lys481ThrfsTer?
ENST00000456676.6:c.1933_1936del
ENST00000458205.6:c.1442_1445del ENSP00000402667.2:p.Lys481ThrfsTer?
ENST00000536378.5:c.1442_1445del ENSP00000444286.2:p.Lys481ThrfsTer?
ENST00000539477.5:c.1442_1445del ENSP00000443665.1:p.Lys481ThrfsTer?
NM_000249.3:c.2165_2168del , LRG_216t1:c.2165_2168del NP_000240.1:p.Lys722ThrfsTer?
NM_001167617.1:c.1871_1874del NP_001161089.1:p.Lys624ThrfsTer?
NM_001167618.1:c.1442_1445del NP_001161090.1:p.Lys481ThrfsTer?
NM_001167619.1:c.1442_1445del NP_001161091.1:p.Lys481ThrfsTer?
NM_001258271.1:c.1958_1961del NP_001245200.1:p.Lys653ThrfsTer?
NM_001258273.1:c.1442_1445del NP_001245202.1:p.Lys481ThrfsTer?
NM_001258274.1:c.1442_1445del NP_001245203.1:p.Lys481ThrfsTer?
XM_005265161.1:c.1958_1961del XP_005265218.1:p.Lys653ThrfsTer?
XM_005265163.1:c.1442_1445del XP_005265220.1:p.Lys481ThrfsTer?
XM_005265164.1:c.1442_1445del XP_005265221.1:p.Lys481ThrfsTer?
XM_005265166.1:c.1142_1145del XP_005265223.1:p.Lys381ThrfsTer?
XM_011533727.1:c.1091_1094del XP_011532029.1:p.Lys364ThrfsTer?
NM_001167617.2:c.1871_1874del NP_001161089.1:p.Lys624ThrfsTer?
NM_001167618.2:c.1442_1445del NP_001161090.1:p.Lys481ThrfsTer?
NM_001167619.2:c.1442_1445del NP_001161091.1:p.Lys481ThrfsTer?
NM_001258274.2:c.1442_1445del NP_001245203.1:p.Lys481ThrfsTer?
NM_001354615.1:c.1442_1445del NP_001341544.1:p.Lys481ThrfsTer?
NM_001354616.1:c.1442_1445del NP_001341545.1:p.Lys481ThrfsTer?
NM_001354617.1:c.1442_1445del NP_001341546.1:p.Lys481ThrfsTer?
NM_001354618.1:c.1442_1445del NP_001341547.1:p.Lys481ThrfsTer?
NM_001354619.1:c.1442_1445del NP_001341548.1:p.Lys481ThrfsTer?
NM_001354620.1:c.1871_1874del NP_001341549.1:p.Lys624ThrfsTer?
NM_001354621.1:c.1142_1145del NP_001341550.1:p.Lys381ThrfsTer?
NM_001354622.1:c.1142_1145del NP_001341551.1:p.Lys381ThrfsTer?
NM_001354623.1:c.1142_1145del NP_001341552.1:p.Lys381ThrfsTer?
NM_001354624.1:c.1091_1094del NP_001341553.1:p.Lys364ThrfsTer?
NM_001354625.1:c.1091_1094del NP_001341554.1:p.Lys364ThrfsTer?
NM_001354626.1:c.1091_1094del NP_001341555.1:p.Lys364ThrfsTer?
NM_001354627.1:c.1091_1094del NP_001341556.1:p.Lys364ThrfsTer?
NM_001354628.1:c.2072_2075del NP_001341557.1:p.Lys691ThrfsTer?
NM_001354629.1:c.2066_2069del NP_001341558.1:p.Lys689ThrfsTer?
NM_001354630.1:c.2000_2003del NP_001341559.1:p.Lys667ThrfsTer?
XM_005265161.2:c.1958_1961del XP_005265218.1:p.Lys653ThrfsTer?
XM_017006450.2:c.1142_1145del XP_016861939.1:p.Lys381ThrfsTer?
NM_000249.4:c.2165_2168del MANE Select NP_000240.1:p.Lys722ThrfsTer?
NM_001167617.3:c.1871_1874del NP_001161089.1:p.Lys624ThrfsTer?
NM_001167618.3:c.1442_1445del NP_001161090.1:p.Lys481ThrfsTer?
NM_001167619.3:c.1442_1445del NP_001161091.1:p.Lys481ThrfsTer?
NM_001258271.2:c.1958_1961del NP_001245200.1:p.Lys653ThrfsTer?
NM_001258273.2:c.1442_1445del NP_001245202.1:p.Lys481ThrfsTer?
NM_001258274.3:c.1442_1445del NP_001245203.1:p.Lys481ThrfsTer?
NM_001354615.2:c.1442_1445del NP_001341544.1:p.Lys481ThrfsTer?
NM_001354616.2:c.1442_1445del NP_001341545.1:p.Lys481ThrfsTer?
NM_001354617.2:c.1442_1445del NP_001341546.1:p.Lys481ThrfsTer?
NM_001354618.2:c.1442_1445del NP_001341547.1:p.Lys481ThrfsTer?
NM_001354619.2:c.1442_1445del NP_001341548.1:p.Lys481ThrfsTer?
NM_001354620.2:c.1871_1874del NP_001341549.1:p.Lys624ThrfsTer?
NM_001354621.2:c.1142_1145del NP_001341550.1:p.Lys381ThrfsTer?
NM_001354622.2:c.1142_1145del NP_001341551.1:p.Lys381ThrfsTer?
NM_001354623.2:c.1142_1145del NP_001341552.1:p.Lys381ThrfsTer?
NM_001354624.2:c.1091_1094del NP_001341553.1:p.Lys364ThrfsTer?
NM_001354625.2:c.1091_1094del NP_001341554.1:p.Lys364ThrfsTer?
NM_001354626.2:c.1091_1094del NP_001341555.1:p.Lys364ThrfsTer?
NM_001354627.2:c.1091_1094del NP_001341556.1:p.Lys364ThrfsTer?
NM_001354628.2:c.2072_2075del NP_001341557.1:p.Lys691ThrfsTer?
NM_001354629.2:c.2066_2069del NP_001341558.1:p.Lys689ThrfsTer?
NM_001354630.2:c.2000_2003del NP_001341559.1:p.Lys667ThrfsTer?