Canonical Allele Identifier: CA2665007445
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-37000817-AAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000819_37000820del , CM000665.2:g.37000819_37000820del GRCh38
NC_000003.11:g.37042310_37042311del , CM000665.1:g.37042310_37042311del GRCh37
NC_000003.10:g.37017314_37017315del NCBI36
NG_007109.2:g.12470_12471del , LRG_216:g.12470_12471del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.208-136_208-135del ENSP00000416476.2:n.208-136_208-135del
ENST00000429117.6:c.-82-136_-82-135del ENSP00000407019.2:n.-82-136_-82-135del
ENST00000450420.6:c.208-136_208-135del ENSP00000393006.2:n.208-136_208-135del
ENST00000456676.7:c.208-136_208-135del ENSP00000416687.3:n.208-136_208-135del
ENST00000458009.6:c.208-136_208-135del ENSP00000411066.2:n.208-136_208-135del
ENST00000492474.6:c.-516-136_-516-135del ENSP00000518393.1:n.-516-136_-516-135del
ENST00000616768.6:c.208-136_208-135del ENSP00000480669.3:n.208-136_208-135del
ENST00000673673.2:c.208-136_208-135del ENSP00000500979.2:n.208-136_208-135del
ENST00000231790.8:c.208-136_208-135del MANE Select ENSP00000231790.3:n.208-136_208-135del
ENST00000413212.2:c.-516-136_-516-135del ENSP00000400844.2:n.-516-136_-516-135del
ENST00000432299.6:c.*288-136_*288-135del ENSP00000416783.1:n.*288-136_*288-135del
ENST00000441265.6:c.-516-136_-516-135del ENSP00000398392.2:n.-516-136_-516-135del
ENST00000442249.6:n.223-136_223-135del
ENST00000447829.6:c.-82-136_-82-135del ENSP00000399329.2:n.-82-136_-82-135del
ENST00000539477.6:c.-424-136_-424-135del ENSP00000443665.1:n.-424-136_-424-135del
ENST00000673673.1:c.161-136_161-135del
ENST00000673713.1:n.239-136_239-135del
ENST00000673715.1:c.208-136_208-135del ENSP00000501301.1:n.208-136_208-135del
ENST00000673897.1:c.117-136_117-135del ENSP00000501109.1:n.117-136_117-135del
ENST00000673899.1:c.208-136_208-135del ENSP00000501030.1:n.208-136_208-135del
ENST00000673947.1:c.*348-136_*348-135del ENSP00000501304.1:n.*348-136_*348-135del
ENST00000673972.1:c.*86-136_*86-135del ENSP00000501281.1:n.*86-136_*86-135del
ENST00000673990.1:n.193-136_193-135del
ENST00000674019.1:c.-516-136_-516-135del ENSP00000501081.1:n.-516-136_-516-135del
ENST00000674107.1:n.150-136_150-135del
ENST00000674111.1:c.208-136_208-135del ENSP00000501162.1:n.208-136_208-135del
ENST00000231790.6:c.208-136_208-135del ENSP00000231790.2:n.208-136_208-135del
ENST00000429117.5:c.-82-136_-82-135del ENSP00000407019.1:n.-82-136_-82-135del
ENST00000432299.5:c.*288-136_*288-135del ENSP00000416783.1:n.*288-136_*288-135del
ENST00000435176.5:c.-82-136_-82-135del ENSP00000402564.1:n.-82-136_-82-135del
ENST00000441265.5:c.-424-136_-424-135del ENSP00000398392.1:n.-424-136_-424-135del
ENST00000442249.5:c.117-136_117-135del ENSP00000387511.1:n.117-136_117-135del
ENST00000454028.5:c.*86-136_*86-135del ENSP00000392649.1:n.*86-136_*86-135del
ENST00000455445.6:c.-516-136_-516-135del ENSP00000398272.2:n.-516-136_-516-135del
ENST00000456676.6:c.183-136_183-135del
ENST00000457004.5:c.*86-3582_*86-3581del ENSP00000407773.1:n.*86-3582_*86-3581del
ENST00000458205.6:c.-516-136_-516-135del ENSP00000402667.2:n.-516-136_-516-135del
ENST00000466900.5:n.135-136_135-135del
ENST00000476172.5:n.330-136_330-135del
ENST00000485889.1:n.212-136_212-135del
ENST00000492474.5:n.231-136_231-135del
ENST00000536378.5:c.-516-136_-516-135del ENSP00000444286.2:n.-516-136_-516-135del
ENST00000539477.5:c.-424-136_-424-135del ENSP00000443665.1:n.-424-136_-424-135del
NM_000249.3:c.208-136_208-135del , LRG_216t1:c.208-136_208-135del NP_000240.1:n.208-136_208-135del
NM_001167617.1:c.-82-136_-82-135del NP_001161089.1:n.-82-136_-82-135del
NM_001167618.1:c.-516-136_-516-135del NP_001161090.1:n.-516-136_-516-135del
NM_001167619.1:c.-424-136_-424-135del NP_001161091.1:n.-424-136_-424-135del
NM_001258271.1:c.208-136_208-135del NP_001245200.1:n.208-136_208-135del
NM_001258273.1:c.-516-136_-516-135del NP_001245202.1:n.-516-136_-516-135del
NM_001258274.1:c.-516-136_-516-135del NP_001245203.1:n.-516-136_-516-135del
XM_005265161.1:c.208-136_208-135del XP_005265218.1:n.208-136_208-135del
XM_005265163.1:c.-516-136_-516-135del XP_005265220.1:n.-516-136_-516-135del
XM_005265164.1:c.-516-136_-516-135del XP_005265221.1:n.-516-136_-516-135del
XM_005265166.1:c.-722-136_-722-135del XP_005265223.1:n.-722-136_-722-135del
XM_011533727.1:c.-619-136_-619-135del XP_011532029.1:n.-619-136_-619-135del
NM_001167617.2:c.-82-136_-82-135del NP_001161089.1:n.-82-136_-82-135del
NM_001167618.2:c.-516-136_-516-135del NP_001161090.1:n.-516-136_-516-135del
NM_001167619.2:c.-424-136_-424-135del NP_001161091.1:n.-424-136_-424-135del
NM_001258274.2:c.-516-136_-516-135del NP_001245203.1:n.-516-136_-516-135del
NM_001354615.1:c.-419-136_-419-135del NP_001341544.1:n.-419-136_-419-135del
NM_001354616.1:c.-424-136_-424-135del NP_001341545.1:n.-424-136_-424-135del
NM_001354617.1:c.-516-136_-516-135del NP_001341546.1:n.-516-136_-516-135del
NM_001354618.1:c.-516-136_-516-135del NP_001341547.1:n.-516-136_-516-135del
NM_001354619.1:c.-516-136_-516-135del NP_001341548.1:n.-516-136_-516-135del
NM_001354620.1:c.-82-136_-82-135del NP_001341549.1:n.-82-136_-82-135del
NM_001354621.1:c.-609-136_-609-135del NP_001341550.1:n.-609-136_-609-135del
NM_001354622.1:c.-722-136_-722-135del NP_001341551.1:n.-722-136_-722-135del
NM_001354623.1:c.-722-136_-722-135del NP_001341552.1:n.-722-136_-722-135del
NM_001354624.1:c.-619-136_-619-135del NP_001341553.1:n.-619-136_-619-135del
NM_001354625.1:c.-522-136_-522-135del NP_001341554.1:n.-522-136_-522-135del
NM_001354626.1:c.-619-136_-619-135del NP_001341555.1:n.-619-136_-619-135del
NM_001354627.1:c.-619-136_-619-135del NP_001341556.1:n.-619-136_-619-135del
NM_001354628.1:c.208-136_208-135del NP_001341557.1:n.208-136_208-135del
NM_001354629.1:c.208-3582_208-3581del NP_001341558.1:n.208-3582_208-3581del
NM_001354630.1:c.208-136_208-135del NP_001341559.1:n.208-136_208-135del
XM_005265161.2:c.208-136_208-135del XP_005265218.1:n.208-136_208-135del
XM_017006450.2:c.-609-136_-609-135del XP_016861939.1:n.-609-136_-609-135del
NM_000249.4:c.208-136_208-135del MANE Select NP_000240.1:n.208-136_208-135del
NM_001167617.3:c.-82-136_-82-135del NP_001161089.1:n.-82-136_-82-135del
NM_001167618.3:c.-516-136_-516-135del NP_001161090.1:n.-516-136_-516-135del
NM_001167619.3:c.-424-136_-424-135del NP_001161091.1:n.-424-136_-424-135del
NM_001258271.2:c.208-136_208-135del NP_001245200.1:n.208-136_208-135del
NM_001258273.2:c.-516-136_-516-135del NP_001245202.1:n.-516-136_-516-135del
NM_001258274.3:c.-516-136_-516-135del NP_001245203.1:n.-516-136_-516-135del
NM_001354615.2:c.-419-136_-419-135del NP_001341544.1:n.-419-136_-419-135del
NM_001354616.2:c.-424-136_-424-135del NP_001341545.1:n.-424-136_-424-135del
NM_001354617.2:c.-516-136_-516-135del NP_001341546.1:n.-516-136_-516-135del
NM_001354618.2:c.-516-136_-516-135del NP_001341547.1:n.-516-136_-516-135del
NM_001354619.2:c.-516-136_-516-135del NP_001341548.1:n.-516-136_-516-135del
NM_001354620.2:c.-82-136_-82-135del NP_001341549.1:n.-82-136_-82-135del
NM_001354621.2:c.-609-136_-609-135del NP_001341550.1:n.-609-136_-609-135del
NM_001354622.2:c.-722-136_-722-135del NP_001341551.1:n.-722-136_-722-135del
NM_001354623.2:c.-722-136_-722-135del NP_001341552.1:n.-722-136_-722-135del
NM_001354624.2:c.-619-136_-619-135del NP_001341553.1:n.-619-136_-619-135del
NM_001354625.2:c.-522-136_-522-135del NP_001341554.1:n.-522-136_-522-135del
NM_001354626.2:c.-619-136_-619-135del NP_001341555.1:n.-619-136_-619-135del
NM_001354627.2:c.-619-136_-619-135del NP_001341556.1:n.-619-136_-619-135del
NM_001354628.2:c.208-136_208-135del NP_001341557.1:n.208-136_208-135del
NM_001354629.2:c.208-3582_208-3581del NP_001341558.1:n.208-3582_208-3581del
NM_001354630.2:c.208-136_208-135del NP_001341559.1:n.208-136_208-135del
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