Canonical Allele Identifier: CA1357871378
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37001038_37001040delinsTGG , CM000665.2:g.37001038_37001040delinsTGG GRCh38
NC_000003.11:g.37042529_37042531delinsTGG , CM000665.1:g.37042529_37042531delinsTGG GRCh37
NC_000003.10:g.37017533_37017535delinsTGG NCBI36
NG_007109.2:g.12689_12691delinsTGG , LRG_216:g.12689_12691delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.291_293delinsTGG ENSP00000416476.2:p.Tyr97=
ENST00000429117.6:c.2_4delinsTGG ENSP00000407019.2:p.Met1=
ENST00000450420.6:c.291_293delinsTGG ENSP00000393006.2:p.Tyr97=
ENST00000456676.7:c.291_293delinsTGG ENSP00000416687.3:p.Tyr97=
ENST00000458009.6:c.291_293delinsTGG ENSP00000411066.2:p.Tyr97=
ENST00000492474.6:c.-433_-431delinsTGG ENSP00000518393.1:n.-433_-431delinsTGG
ENST00000616768.6:c.291_293delinsTGG ENSP00000480669.3:p.Tyr97=
ENST00000673673.2:c.291_293delinsTGG ENSP00000500979.2:p.Tyr97=
ENST00000231790.8:c.291_293delinsTGG MANE Select ENSP00000231790.3:p.Tyr97=
ENST00000413212.2:c.-433_-431delinsTGG ENSP00000400844.2:n.-433_-431delinsTGG
ENST00000432299.6:c.*371_*373delinsTGG ENSP00000416783.1:n.*371_*373delinsTGG
ENST00000441265.6:c.-433_-431delinsTGG ENSP00000398392.2:n.-433_-431delinsTGG
ENST00000442249.6:n.306_308delinsTGG
ENST00000447829.6:c.2_4delinsTGG ENSP00000399329.2:p.Met1=
ENST00000539477.6:c.-341_-339delinsTGG ENSP00000443665.1:n.-341_-339delinsTGG
ENST00000673673.1:c.244_246delinsTGG
ENST00000673713.1:n.322_324delinsTGG
ENST00000673715.1:c.291_293delinsTGG ENSP00000501301.1:p.Tyr97=
ENST00000673897.1:c.*83_*85delinsTGG ENSP00000501109.1:n.*83_*85delinsTGG
ENST00000673899.1:c.291_293delinsTGG ENSP00000501030.1:p.Tyr97=
ENST00000673947.1:c.*431_*433delinsTGG ENSP00000501304.1:n.*431_*433delinsTGG
ENST00000673972.1:c.*169_*171delinsTGG ENSP00000501281.1:n.*169_*171delinsTGG
ENST00000673990.1:n.276_278delinsTGG
ENST00000674019.1:c.-433_-431delinsTGG ENSP00000501081.1:n.-433_-431delinsTGG
ENST00000674107.1:n.233_235delinsTGG
ENST00000674111.1:c.291_293delinsTGG ENSP00000501162.1:p.Tyr97=
ENST00000231790.6:c.291_293delinsTGG ENSP00000231790.2:p.Tyr97=
ENST00000429117.5:c.2_4delinsTGG ENSP00000407019.1:p.Met1=
ENST00000432299.5:c.*371_*373delinsTGG ENSP00000416783.1:n.*371_*373delinsTGG
ENST00000435176.5:c.2_4delinsTGG ENSP00000402564.1:p.Met1=
ENST00000441265.5:c.-341_-339delinsTGG ENSP00000398392.1:n.-341_-339delinsTGG
ENST00000442249.5:c.*83_*85delinsTGG ENSP00000387511.1:n.*83_*85delinsTGG
ENST00000454028.5:c.*169_*171delinsTGG ENSP00000392649.1:n.*169_*171delinsTGG
ENST00000455445.6:c.-433_-431delinsTGG ENSP00000398272.2:n.-433_-431delinsTGG
ENST00000456676.6:c.266_268delinsTGG
ENST00000457004.5:c.*86-3363_*86-3361delinsTGG ENSP00000407773.1:n.*86-3363_*86-3361delinsTGG
ENST00000458205.6:c.-433_-431delinsTGG ENSP00000402667.2:n.-433_-431delinsTGG
ENST00000466900.5:n.218_220delinsTGG
ENST00000476172.5:n.413_415delinsTGG
ENST00000485889.1:n.295_297delinsTGG
ENST00000492474.5:n.314_316delinsTGG
ENST00000536378.5:c.-433_-431delinsTGG ENSP00000444286.2:n.-433_-431delinsTGG
ENST00000539477.5:c.-341_-339delinsTGG ENSP00000443665.1:n.-341_-339delinsTGG
NM_000249.3:c.291_293delinsTGG , LRG_216t1:c.291_293delinsTGG NP_000240.1:p.Tyr97=
NM_001167617.1:c.2_4delinsTGG NP_001161089.1:p.Met1=
NM_001167618.1:c.-433_-431delinsTGG NP_001161090.1:n.-433_-431delinsTGG
NM_001167619.1:c.-341_-339delinsTGG NP_001161091.1:n.-341_-339delinsTGG
NM_001258271.1:c.291_293delinsTGG NP_001245200.1:p.Tyr97=
NM_001258273.1:c.-433_-431delinsTGG NP_001245202.1:n.-433_-431delinsTGG
NM_001258274.1:c.-433_-431delinsTGG NP_001245203.1:n.-433_-431delinsTGG
XM_005265161.1:c.291_293delinsTGG XP_005265218.1:p.Tyr97=
XM_005265163.1:c.-433_-431delinsTGG XP_005265220.1:n.-433_-431delinsTGG
XM_005265164.1:c.-433_-431delinsTGG XP_005265221.1:n.-433_-431delinsTGG
XM_005265166.1:c.-639_-637delinsTGG XP_005265223.1:n.-639_-637delinsTGG
XM_011533727.1:c.-536_-534delinsTGG XP_011532029.1:n.-536_-534delinsTGG
NM_001167617.2:c.2_4delinsTGG NP_001161089.1:p.Met1=
NM_001167618.2:c.-433_-431delinsTGG NP_001161090.1:n.-433_-431delinsTGG
NM_001167619.2:c.-341_-339delinsTGG NP_001161091.1:n.-341_-339delinsTGG
NM_001258274.2:c.-433_-431delinsTGG NP_001245203.1:n.-433_-431delinsTGG
NM_001354615.1:c.-336_-334delinsTGG NP_001341544.1:n.-336_-334delinsTGG
NM_001354616.1:c.-341_-339delinsTGG NP_001341545.1:n.-341_-339delinsTGG
NM_001354617.1:c.-433_-431delinsTGG NP_001341546.1:n.-433_-431delinsTGG
NM_001354618.1:c.-433_-431delinsTGG NP_001341547.1:n.-433_-431delinsTGG
NM_001354619.1:c.-433_-431delinsTGG NP_001341548.1:n.-433_-431delinsTGG
NM_001354620.1:c.2_4delinsTGG NP_001341549.1:p.Met1=
NM_001354621.1:c.-526_-524delinsTGG NP_001341550.1:n.-526_-524delinsTGG
NM_001354622.1:c.-639_-637delinsTGG NP_001341551.1:n.-639_-637delinsTGG
NM_001354623.1:c.-639_-637delinsTGG NP_001341552.1:n.-639_-637delinsTGG
NM_001354624.1:c.-536_-534delinsTGG NP_001341553.1:n.-536_-534delinsTGG
NM_001354625.1:c.-439_-437delinsTGG NP_001341554.1:n.-439_-437delinsTGG
NM_001354626.1:c.-536_-534delinsTGG NP_001341555.1:n.-536_-534delinsTGG
NM_001354627.1:c.-536_-534delinsTGG NP_001341556.1:n.-536_-534delinsTGG
NM_001354628.1:c.291_293delinsTGG NP_001341557.1:p.Tyr97=
NM_001354629.1:c.208-3363_208-3361delinsTGG NP_001341558.1:n.208-3363_208-3361delinsTGG
NM_001354630.1:c.291_293delinsTGG NP_001341559.1:p.Tyr97=
XM_005265161.2:c.291_293delinsTGG XP_005265218.1:p.Tyr97=
XM_017006450.2:c.-526_-524delinsTGG XP_016861939.1:n.-526_-524delinsTGG
NM_000249.4:c.291_293delinsTGG MANE Select NP_000240.1:p.Tyr97=
NM_001167617.3:c.2_4delinsTGG NP_001161089.1:p.Met1=
NM_001167618.3:c.-433_-431delinsTGG NP_001161090.1:n.-433_-431delinsTGG
NM_001167619.3:c.-341_-339delinsTGG NP_001161091.1:n.-341_-339delinsTGG
NM_001258271.2:c.291_293delinsTGG NP_001245200.1:p.Tyr97=
NM_001258273.2:c.-433_-431delinsTGG NP_001245202.1:n.-433_-431delinsTGG
NM_001258274.3:c.-433_-431delinsTGG NP_001245203.1:n.-433_-431delinsTGG
NM_001354615.2:c.-336_-334delinsTGG NP_001341544.1:n.-336_-334delinsTGG
NM_001354616.2:c.-341_-339delinsTGG NP_001341545.1:n.-341_-339delinsTGG
NM_001354617.2:c.-433_-431delinsTGG NP_001341546.1:n.-433_-431delinsTGG
NM_001354618.2:c.-433_-431delinsTGG NP_001341547.1:n.-433_-431delinsTGG
NM_001354619.2:c.-433_-431delinsTGG NP_001341548.1:n.-433_-431delinsTGG
NM_001354620.2:c.2_4delinsTGG NP_001341549.1:p.Met1=
NM_001354621.2:c.-526_-524delinsTGG NP_001341550.1:n.-526_-524delinsTGG
NM_001354622.2:c.-639_-637delinsTGG NP_001341551.1:n.-639_-637delinsTGG
NM_001354623.2:c.-639_-637delinsTGG NP_001341552.1:n.-639_-637delinsTGG
NM_001354624.2:c.-536_-534delinsTGG NP_001341553.1:n.-536_-534delinsTGG
NM_001354625.2:c.-439_-437delinsTGG NP_001341554.1:n.-439_-437delinsTGG
NM_001354626.2:c.-536_-534delinsTGG NP_001341555.1:n.-536_-534delinsTGG
NM_001354627.2:c.-536_-534delinsTGG NP_001341556.1:n.-536_-534delinsTGG
NM_001354628.2:c.291_293delinsTGG NP_001341557.1:p.Tyr97=
NM_001354629.2:c.208-3363_208-3361delinsTGG NP_001341558.1:n.208-3363_208-3361delinsTGG
NM_001354630.2:c.291_293delinsTGG NP_001341559.1:p.Tyr97=