Canonical Allele Identifier: CA2586965681
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674281
ClinVar RCV Id: RCV003452477
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000998_37001002del , CM000665.2:g.37000998_37001002del GRCh38
NC_000003.11:g.37042489_37042493del , CM000665.1:g.37042489_37042493del GRCh37
NC_000003.10:g.37017493_37017497del NCBI36
NG_007109.2:g.12649_12653del , LRG_216:g.12649_12653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.251_255del ENSP00000416476.2:p.Lys84ThrfsTer4
ENST00000429117.6:c.-39_-35del ENSP00000407019.2:n.-39_-35del
ENST00000450420.6:c.251_255del ENSP00000393006.2:p.Lys84ThrfsTer4
ENST00000456676.7:c.251_255del ENSP00000416687.3:p.Lys84ThrfsTer4
ENST00000458009.6:c.251_255del ENSP00000411066.2:p.Lys84ThrfsTer4
ENST00000492474.6:c.-473_-469del ENSP00000518393.1:n.-473_-469del
ENST00000616768.6:c.251_255del ENSP00000480669.3:p.Lys84ThrfsTer4
ENST00000673673.2:c.251_255del ENSP00000500979.2:p.Lys84ThrfsTer4
ENST00000231790.8:c.251_255del MANE Select ENSP00000231790.3:p.Lys84ThrfsTer4
ENST00000413212.2:c.-473_-469del ENSP00000400844.2:n.-473_-469del
ENST00000432299.6:c.*331_*335del ENSP00000416783.1:n.*331_*335del
ENST00000441265.6:c.-473_-469del ENSP00000398392.2:n.-473_-469del
ENST00000442249.6:n.266_270del
ENST00000447829.6:c.-39_-35del ENSP00000399329.2:n.-39_-35del
ENST00000539477.6:c.-381_-377del ENSP00000443665.1:n.-381_-377del
ENST00000673673.1:c.204_208del
ENST00000673713.1:n.282_286del
ENST00000673715.1:c.251_255del ENSP00000501301.1:p.Lys84ThrfsTer4
ENST00000673897.1:c.*43_*47del ENSP00000501109.1:n.*43_*47del
ENST00000673899.1:c.251_255del ENSP00000501030.1:p.Lys84ThrfsTer4
ENST00000673947.1:c.*391_*395del ENSP00000501304.1:n.*391_*395del
ENST00000673972.1:c.*129_*133del ENSP00000501281.1:n.*129_*133del
ENST00000673990.1:n.236_240del
ENST00000674019.1:c.-473_-469del ENSP00000501081.1:n.-473_-469del
ENST00000674107.1:n.193_197del
ENST00000674111.1:c.251_255del ENSP00000501162.1:p.Lys84ThrfsTer4
ENST00000231790.6:c.251_255del ENSP00000231790.2:p.Lys84ThrfsTer4
ENST00000429117.5:c.-39_-35del ENSP00000407019.1:n.-39_-35del
ENST00000432299.5:c.*331_*335del ENSP00000416783.1:n.*331_*335del
ENST00000435176.5:c.-39_-35del ENSP00000402564.1:n.-39_-35del
ENST00000441265.5:c.-381_-377del ENSP00000398392.1:n.-381_-377del
ENST00000442249.5:c.*43_*47del ENSP00000387511.1:n.*43_*47del
ENST00000454028.5:c.*129_*133del ENSP00000392649.1:n.*129_*133del
ENST00000455445.6:c.-473_-469del ENSP00000398272.2:n.-473_-469del
ENST00000456676.6:c.226_230del
ENST00000457004.5:c.*86-3403_*86-3399del ENSP00000407773.1:n.*86-3403_*86-3399del
ENST00000458205.6:c.-473_-469del ENSP00000402667.2:n.-473_-469del
ENST00000466900.5:n.178_182del
ENST00000476172.5:n.373_377del
ENST00000485889.1:n.255_259del
ENST00000492474.5:n.274_278del
ENST00000536378.5:c.-473_-469del ENSP00000444286.2:n.-473_-469del
ENST00000539477.5:c.-381_-377del ENSP00000443665.1:n.-381_-377del
NM_000249.3:c.251_255del , LRG_216t1:c.251_255del NP_000240.1:p.Lys84ThrfsTer4
NM_001167617.1:c.-39_-35del NP_001161089.1:n.-39_-35del
NM_001167618.1:c.-473_-469del NP_001161090.1:n.-473_-469del
NM_001167619.1:c.-381_-377del NP_001161091.1:n.-381_-377del
NM_001258271.1:c.251_255del NP_001245200.1:p.Lys84ThrfsTer4
NM_001258273.1:c.-473_-469del NP_001245202.1:n.-473_-469del
NM_001258274.1:c.-473_-469del NP_001245203.1:n.-473_-469del
XM_005265161.1:c.251_255del XP_005265218.1:p.Lys84ThrfsTer4
XM_005265163.1:c.-473_-469del XP_005265220.1:n.-473_-469del
XM_005265164.1:c.-473_-469del XP_005265221.1:n.-473_-469del
XM_005265166.1:c.-679_-675del XP_005265223.1:n.-679_-675del
XM_011533727.1:c.-576_-572del XP_011532029.1:n.-576_-572del
NM_001167617.2:c.-39_-35del NP_001161089.1:n.-39_-35del
NM_001167618.2:c.-473_-469del NP_001161090.1:n.-473_-469del
NM_001167619.2:c.-381_-377del NP_001161091.1:n.-381_-377del
NM_001258274.2:c.-473_-469del NP_001245203.1:n.-473_-469del
NM_001354615.1:c.-376_-372del NP_001341544.1:n.-376_-372del
NM_001354616.1:c.-381_-377del NP_001341545.1:n.-381_-377del
NM_001354617.1:c.-473_-469del NP_001341546.1:n.-473_-469del
NM_001354618.1:c.-473_-469del NP_001341547.1:n.-473_-469del
NM_001354619.1:c.-473_-469del NP_001341548.1:n.-473_-469del
NM_001354620.1:c.-39_-35del NP_001341549.1:n.-39_-35del
NM_001354621.1:c.-566_-562del NP_001341550.1:n.-566_-562del
NM_001354622.1:c.-679_-675del NP_001341551.1:n.-679_-675del
NM_001354623.1:c.-679_-675del NP_001341552.1:n.-679_-675del
NM_001354624.1:c.-576_-572del NP_001341553.1:n.-576_-572del
NM_001354625.1:c.-479_-475del NP_001341554.1:n.-479_-475del
NM_001354626.1:c.-576_-572del NP_001341555.1:n.-576_-572del
NM_001354627.1:c.-576_-572del NP_001341556.1:n.-576_-572del
NM_001354628.1:c.251_255del NP_001341557.1:p.Lys84ThrfsTer4
NM_001354629.1:c.208-3403_208-3399del NP_001341558.1:n.208-3403_208-3399del
NM_001354630.1:c.251_255del NP_001341559.1:p.Lys84ThrfsTer4
XM_005265161.2:c.251_255del XP_005265218.1:p.Lys84ThrfsTer4
XM_017006450.2:c.-566_-562del XP_016861939.1:n.-566_-562del
NM_000249.4:c.251_255del MANE Select NP_000240.1:p.Lys84ThrfsTer4
NM_001167617.3:c.-39_-35del NP_001161089.1:n.-39_-35del
NM_001167618.3:c.-473_-469del NP_001161090.1:n.-473_-469del
NM_001167619.3:c.-381_-377del NP_001161091.1:n.-381_-377del
NM_001258271.2:c.251_255del NP_001245200.1:p.Lys84ThrfsTer4
NM_001258273.2:c.-473_-469del NP_001245202.1:n.-473_-469del
NM_001258274.3:c.-473_-469del NP_001245203.1:n.-473_-469del
NM_001354615.2:c.-376_-372del NP_001341544.1:n.-376_-372del
NM_001354616.2:c.-381_-377del NP_001341545.1:n.-381_-377del
NM_001354617.2:c.-473_-469del NP_001341546.1:n.-473_-469del
NM_001354618.2:c.-473_-469del NP_001341547.1:n.-473_-469del
NM_001354619.2:c.-473_-469del NP_001341548.1:n.-473_-469del
NM_001354620.2:c.-39_-35del NP_001341549.1:n.-39_-35del
NM_001354621.2:c.-566_-562del NP_001341550.1:n.-566_-562del
NM_001354622.2:c.-679_-675del NP_001341551.1:n.-679_-675del
NM_001354623.2:c.-679_-675del NP_001341552.1:n.-679_-675del
NM_001354624.2:c.-576_-572del NP_001341553.1:n.-576_-572del
NM_001354625.2:c.-479_-475del NP_001341554.1:n.-479_-475del
NM_001354626.2:c.-576_-572del NP_001341555.1:n.-576_-572del
NM_001354627.2:c.-576_-572del NP_001341556.1:n.-576_-572del
NM_001354628.2:c.251_255del NP_001341557.1:p.Lys84ThrfsTer4
NM_001354629.2:c.208-3403_208-3399del NP_001341558.1:n.208-3403_208-3399del
NM_001354630.2:c.251_255del NP_001341559.1:p.Lys84ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'