Canonical Allele Identifier: CA542217306
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs1326981477
gnomAD v2: 3-37042215-ACT-A
gnomAD v3: 3-37000724-ACT-A
gnomAD v4: 3-37000724-ACT-A
MyVariant Identifiers: chr3:g.37042216_37042217del (hg19) chr3:g.37000725_37000726del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000727_37000728del , CM000665.2:g.37000727_37000728del GRCh38
NC_000003.11:g.37042218_37042219del , CM000665.1:g.37042218_37042219del GRCh37
NC_000003.10:g.37017222_37017223del NCBI36
NG_007109.2:g.12378_12379del , LRG_216:g.12378_12379del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.208-228_208-227del ENSP00000416476.2:n.208-228_208-227del
ENST00000429117.6:c.-82-228_-82-227del ENSP00000407019.2:n.-82-228_-82-227del
ENST00000450420.6:c.208-228_208-227del ENSP00000393006.2:n.208-228_208-227del
ENST00000456676.7:c.208-228_208-227del ENSP00000416687.3:n.208-228_208-227del
ENST00000458009.6:c.208-228_208-227del ENSP00000411066.2:n.208-228_208-227del
ENST00000492474.6:c.-516-228_-516-227del ENSP00000518393.1:n.-516-228_-516-227del
ENST00000616768.6:c.208-228_208-227del ENSP00000480669.3:n.208-228_208-227del
ENST00000673673.2:c.208-228_208-227del ENSP00000500979.2:n.208-228_208-227del
ENST00000231790.8:c.208-228_208-227del MANE Select ENSP00000231790.3:n.208-228_208-227del
ENST00000413212.2:c.-516-228_-516-227del ENSP00000400844.2:n.-516-228_-516-227del
ENST00000432299.6:c.*288-228_*288-227del ENSP00000416783.1:n.*288-228_*288-227del
ENST00000441265.6:c.-516-228_-516-227del ENSP00000398392.2:n.-516-228_-516-227del
ENST00000442249.6:n.223-228_223-227del
ENST00000447829.6:c.-82-228_-82-227del ENSP00000399329.2:n.-82-228_-82-227del
ENST00000539477.6:c.-424-228_-424-227del ENSP00000443665.1:n.-424-228_-424-227del
ENST00000673673.1:c.161-228_161-227del
ENST00000673713.1:n.239-228_239-227del
ENST00000673715.1:c.208-228_208-227del ENSP00000501301.1:n.208-228_208-227del
ENST00000673897.1:c.117-228_117-227del ENSP00000501109.1:n.117-228_117-227del
ENST00000673899.1:c.208-228_208-227del ENSP00000501030.1:n.208-228_208-227del
ENST00000673947.1:c.*348-228_*348-227del ENSP00000501304.1:n.*348-228_*348-227del
ENST00000673972.1:c.*86-228_*86-227del ENSP00000501281.1:n.*86-228_*86-227del
ENST00000673990.1:n.193-228_193-227del
ENST00000674019.1:c.-516-228_-516-227del ENSP00000501081.1:n.-516-228_-516-227del
ENST00000674107.1:n.150-228_150-227del
ENST00000674111.1:c.208-228_208-227del ENSP00000501162.1:n.208-228_208-227del
ENST00000231790.6:c.208-228_208-227del ENSP00000231790.2:n.208-228_208-227del
ENST00000429117.5:c.-82-228_-82-227del ENSP00000407019.1:n.-82-228_-82-227del
ENST00000432299.5:c.*288-228_*288-227del ENSP00000416783.1:n.*288-228_*288-227del
ENST00000435176.5:c.-82-228_-82-227del ENSP00000402564.1:n.-82-228_-82-227del
ENST00000441265.5:c.-424-228_-424-227del ENSP00000398392.1:n.-424-228_-424-227del
ENST00000442249.5:c.117-228_117-227del ENSP00000387511.1:n.117-228_117-227del
ENST00000454028.5:c.*86-228_*86-227del ENSP00000392649.1:n.*86-228_*86-227del
ENST00000455445.6:c.-516-228_-516-227del ENSP00000398272.2:n.-516-228_-516-227del
ENST00000456676.6:c.183-228_183-227del
ENST00000457004.5:c.*86-3674_*86-3673del ENSP00000407773.1:n.*86-3674_*86-3673del
ENST00000458205.6:c.-516-228_-516-227del ENSP00000402667.2:n.-516-228_-516-227del
ENST00000466900.5:n.135-228_135-227del
ENST00000476172.5:n.330-228_330-227del
ENST00000485889.1:n.212-228_212-227del
ENST00000492474.5:n.231-228_231-227del
ENST00000536378.5:c.-516-228_-516-227del ENSP00000444286.2:n.-516-228_-516-227del
ENST00000539477.5:c.-424-228_-424-227del ENSP00000443665.1:n.-424-228_-424-227del
NM_000249.3:c.208-228_208-227del , LRG_216t1:c.208-228_208-227del NP_000240.1:n.208-228_208-227del
NM_001167617.1:c.-82-228_-82-227del NP_001161089.1:n.-82-228_-82-227del
NM_001167618.1:c.-516-228_-516-227del NP_001161090.1:n.-516-228_-516-227del
NM_001167619.1:c.-424-228_-424-227del NP_001161091.1:n.-424-228_-424-227del
NM_001258271.1:c.208-228_208-227del NP_001245200.1:n.208-228_208-227del
NM_001258273.1:c.-516-228_-516-227del NP_001245202.1:n.-516-228_-516-227del
NM_001258274.1:c.-516-228_-516-227del NP_001245203.1:n.-516-228_-516-227del
XM_005265161.1:c.208-228_208-227del XP_005265218.1:n.208-228_208-227del
XM_005265163.1:c.-516-228_-516-227del XP_005265220.1:n.-516-228_-516-227del
XM_005265164.1:c.-516-228_-516-227del XP_005265221.1:n.-516-228_-516-227del
XM_005265166.1:c.-722-228_-722-227del XP_005265223.1:n.-722-228_-722-227del
XM_011533727.1:c.-619-228_-619-227del XP_011532029.1:n.-619-228_-619-227del
NM_001167617.2:c.-82-228_-82-227del NP_001161089.1:n.-82-228_-82-227del
NM_001167618.2:c.-516-228_-516-227del NP_001161090.1:n.-516-228_-516-227del
NM_001167619.2:c.-424-228_-424-227del NP_001161091.1:n.-424-228_-424-227del
NM_001258274.2:c.-516-228_-516-227del NP_001245203.1:n.-516-228_-516-227del
NM_001354615.1:c.-419-228_-419-227del NP_001341544.1:n.-419-228_-419-227del
NM_001354616.1:c.-424-228_-424-227del NP_001341545.1:n.-424-228_-424-227del
NM_001354617.1:c.-516-228_-516-227del NP_001341546.1:n.-516-228_-516-227del
NM_001354618.1:c.-516-228_-516-227del NP_001341547.1:n.-516-228_-516-227del
NM_001354619.1:c.-516-228_-516-227del NP_001341548.1:n.-516-228_-516-227del
NM_001354620.1:c.-82-228_-82-227del NP_001341549.1:n.-82-228_-82-227del
NM_001354621.1:c.-609-228_-609-227del NP_001341550.1:n.-609-228_-609-227del
NM_001354622.1:c.-722-228_-722-227del NP_001341551.1:n.-722-228_-722-227del
NM_001354623.1:c.-722-228_-722-227del NP_001341552.1:n.-722-228_-722-227del
NM_001354624.1:c.-619-228_-619-227del NP_001341553.1:n.-619-228_-619-227del
NM_001354625.1:c.-522-228_-522-227del NP_001341554.1:n.-522-228_-522-227del
NM_001354626.1:c.-619-228_-619-227del NP_001341555.1:n.-619-228_-619-227del
NM_001354627.1:c.-619-228_-619-227del NP_001341556.1:n.-619-228_-619-227del
NM_001354628.1:c.208-228_208-227del NP_001341557.1:n.208-228_208-227del
NM_001354629.1:c.208-3674_208-3673del NP_001341558.1:n.208-3674_208-3673del
NM_001354630.1:c.208-228_208-227del NP_001341559.1:n.208-228_208-227del
XM_005265161.2:c.208-228_208-227del XP_005265218.1:n.208-228_208-227del
XM_017006450.2:c.-609-228_-609-227del XP_016861939.1:n.-609-228_-609-227del
NM_000249.4:c.208-228_208-227del MANE Select NP_000240.1:n.208-228_208-227del
NM_001167617.3:c.-82-228_-82-227del NP_001161089.1:n.-82-228_-82-227del
NM_001167618.3:c.-516-228_-516-227del NP_001161090.1:n.-516-228_-516-227del
NM_001167619.3:c.-424-228_-424-227del NP_001161091.1:n.-424-228_-424-227del
NM_001258271.2:c.208-228_208-227del NP_001245200.1:n.208-228_208-227del
NM_001258273.2:c.-516-228_-516-227del NP_001245202.1:n.-516-228_-516-227del
NM_001258274.3:c.-516-228_-516-227del NP_001245203.1:n.-516-228_-516-227del
NM_001354615.2:c.-419-228_-419-227del NP_001341544.1:n.-419-228_-419-227del
NM_001354616.2:c.-424-228_-424-227del NP_001341545.1:n.-424-228_-424-227del
NM_001354617.2:c.-516-228_-516-227del NP_001341546.1:n.-516-228_-516-227del
NM_001354618.2:c.-516-228_-516-227del NP_001341547.1:n.-516-228_-516-227del
NM_001354619.2:c.-516-228_-516-227del NP_001341548.1:n.-516-228_-516-227del
NM_001354620.2:c.-82-228_-82-227del NP_001341549.1:n.-82-228_-82-227del
NM_001354621.2:c.-609-228_-609-227del NP_001341550.1:n.-609-228_-609-227del
NM_001354622.2:c.-722-228_-722-227del NP_001341551.1:n.-722-228_-722-227del
NM_001354623.2:c.-722-228_-722-227del NP_001341552.1:n.-722-228_-722-227del
NM_001354624.2:c.-619-228_-619-227del NP_001341553.1:n.-619-228_-619-227del
NM_001354625.2:c.-522-228_-522-227del NP_001341554.1:n.-522-228_-522-227del
NM_001354626.2:c.-619-228_-619-227del NP_001341555.1:n.-619-228_-619-227del
NM_001354627.2:c.-619-228_-619-227del NP_001341556.1:n.-619-228_-619-227del
NM_001354628.2:c.208-228_208-227del NP_001341557.1:n.208-228_208-227del
NM_001354629.2:c.208-3674_208-3673del NP_001341558.1:n.208-3674_208-3673del
NM_001354630.2:c.208-228_208-227del NP_001341559.1:n.208-228_208-227del
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