Canonical Allele Identifier: CA1357867124
Gene: MLH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36996691_36996693delinsCAA , CM000665.2:g.36996691_36996693delinsCAA GRCh38
NC_000003.11:g.37038182_37038184delinsCAA , CM000665.1:g.37038182_37038184delinsCAA GRCh37
NC_000003.10:g.37013186_37013188delinsCAA NCBI36
NG_007109.2:g.8342_8344delinsCAA , LRG_216:g.8342_8344delinsCAA
NG_008418.1:g.1612_1614delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.189_191delinsCAA ENSP00000416476.2:p.Asp63=
ENST00000429117.6:c.-101_-99delinsCAA ENSP00000407019.2:n.-101_-99delinsCAA
ENST00000450420.6:c.189_191delinsCAA ENSP00000393006.2:p.Asp63=
ENST00000456676.7:c.189_191delinsCAA ENSP00000416687.3:p.Asp63=
ENST00000458009.6:c.189_191delinsCAA ENSP00000411066.2:p.Asp63=
ENST00000492474.6:c.-535_-533delinsCAA ENSP00000518393.1:n.-535_-533delinsCAA
ENST00000616768.6:c.189_191delinsCAA ENSP00000480669.3:p.Asp63=
ENST00000673673.2:c.189_191delinsCAA ENSP00000500979.2:p.Asp63=
ENST00000231790.8:c.189_191delinsCAA MANE Select ENSP00000231790.3:p.Asp63=
ENST00000413212.2:c.-535_-533delinsCAA ENSP00000400844.2:n.-535_-533delinsCAA
ENST00000432299.6:c.*269_*271delinsCAA ENSP00000416783.1:n.*269_*271delinsCAA
ENST00000441265.6:c.-535_-533delinsCAA ENSP00000398392.2:n.-535_-533delinsCAA
ENST00000442249.6:n.204_206delinsCAA
ENST00000447829.6:c.-101_-99delinsCAA ENSP00000399329.2:n.-101_-99delinsCAA
ENST00000476172.6:n.1120-1279_1120-1277delinsCAA
ENST00000539477.6:c.-443_-441delinsCAA ENSP00000443665.1:n.-443_-441delinsCAA
ENST00000673673.1:c.142_144delinsCAA
ENST00000673686.1:n.179_181delinsCAA
ENST00000673713.1:n.220_222delinsCAA
ENST00000673715.1:c.189_191delinsCAA ENSP00000501301.1:p.Asp63=
ENST00000673897.1:c.116+3028_116+3030delinsCAA ENSP00000501109.1:n.116+3028_116+3030delinsCAA
ENST00000673899.1:c.189_191delinsCAA ENSP00000501030.1:p.Asp63=
ENST00000673947.1:c.*329_*331delinsCAA ENSP00000501304.1:n.*329_*331delinsCAA
ENST00000673972.1:c.*67_*69delinsCAA ENSP00000501281.1:n.*67_*69delinsCAA
ENST00000673990.1:n.174_176delinsCAA
ENST00000674019.1:c.-535_-533delinsCAA ENSP00000501081.1:n.-535_-533delinsCAA
ENST00000674107.1:n.131_133delinsCAA
ENST00000674111.1:c.189_191delinsCAA ENSP00000501162.1:p.Asp63=
ENST00000231790.6:c.189_191delinsCAA ENSP00000231790.2:p.Asp63=
ENST00000429117.5:c.-101_-99delinsCAA ENSP00000407019.1:n.-101_-99delinsCAA
ENST00000432299.5:c.*269_*271delinsCAA ENSP00000416783.1:n.*269_*271delinsCAA
ENST00000435176.5:c.-101_-99delinsCAA ENSP00000402564.1:n.-101_-99delinsCAA
ENST00000441265.5:c.-443_-441delinsCAA ENSP00000398392.1:n.-443_-441delinsCAA
ENST00000442249.5:c.116+3028_116+3030delinsCAA ENSP00000387511.1:n.116+3028_116+3030delinsCAA
ENST00000454028.5:c.*67_*69delinsCAA ENSP00000392649.1:n.*67_*69delinsCAA
ENST00000455445.6:c.-535_-533delinsCAA ENSP00000398272.2:n.-535_-533delinsCAA
ENST00000456676.6:c.164_166delinsCAA
ENST00000457004.5:c.*67_*69delinsCAA ENSP00000407773.1:n.*67_*69delinsCAA
ENST00000458205.6:c.-680_-678delinsCAA ENSP00000402667.2:n.-680_-678delinsCAA
ENST00000466900.5:n.116_118delinsCAA
ENST00000476172.5:n.311_313delinsCAA
ENST00000485889.1:n.193_195delinsCAA
ENST00000492474.5:n.212_214delinsCAA
ENST00000536378.5:c.-517+3028_-517+3030delinsCAA ENSP00000444286.2:n.-517+3028_-517+3030delinsCAA
ENST00000539477.5:c.-443_-441delinsCAA ENSP00000443665.1:n.-443_-441delinsCAA
NM_000249.3:c.189_191delinsCAA , LRG_216t1:c.189_191delinsCAA NP_000240.1:p.Asp63=
NM_001167617.1:c.-101_-99delinsCAA NP_001161089.1:n.-101_-99delinsCAA
NM_001167618.1:c.-535_-533delinsCAA NP_001161090.1:n.-535_-533delinsCAA
NM_001167619.1:c.-443_-441delinsCAA NP_001161091.1:n.-443_-441delinsCAA
NM_001258271.1:c.189_191delinsCAA NP_001245200.1:p.Asp63=
NM_001258273.1:c.-517+3028_-517+3030delinsCAA NP_001245202.1:n.-517+3028_-517+3030delinsCAA
NM_001258274.1:c.-680_-678delinsCAA NP_001245203.1:n.-680_-678delinsCAA
XM_005265161.1:c.189_191delinsCAA XP_005265218.1:p.Asp63=
XM_005265163.1:c.-535_-533delinsCAA XP_005265220.1:n.-535_-533delinsCAA
XM_005265164.1:c.-535_-533delinsCAA XP_005265221.1:n.-535_-533delinsCAA
XM_005265166.1:c.-741_-739delinsCAA XP_005265223.1:n.-741_-739delinsCAA
XM_011533727.1:c.-638_-636delinsCAA XP_011532029.1:n.-638_-636delinsCAA
NM_001167617.2:c.-101_-99delinsCAA NP_001161089.1:n.-101_-99delinsCAA
NM_001167618.2:c.-535_-533delinsCAA NP_001161090.1:n.-535_-533delinsCAA
NM_001167619.2:c.-443_-441delinsCAA NP_001161091.1:n.-443_-441delinsCAA
NM_001258274.2:c.-680_-678delinsCAA NP_001245203.1:n.-680_-678delinsCAA
NM_001354615.1:c.-438_-436delinsCAA NP_001341544.1:n.-438_-436delinsCAA
NM_001354616.1:c.-443_-441delinsCAA NP_001341545.1:n.-443_-441delinsCAA
NM_001354617.1:c.-535_-533delinsCAA NP_001341546.1:n.-535_-533delinsCAA
NM_001354618.1:c.-535_-533delinsCAA NP_001341547.1:n.-535_-533delinsCAA
NM_001354619.1:c.-535_-533delinsCAA NP_001341548.1:n.-535_-533delinsCAA
NM_001354620.1:c.-101_-99delinsCAA NP_001341549.1:n.-101_-99delinsCAA
NM_001354621.1:c.-628_-626delinsCAA NP_001341550.1:n.-628_-626delinsCAA
NM_001354622.1:c.-741_-739delinsCAA NP_001341551.1:n.-741_-739delinsCAA
NM_001354623.1:c.-723+2801_-723+2803delinsCAA NP_001341552.1:n.-723+2801_-723+2803delinsCAA
NM_001354624.1:c.-638_-636delinsCAA NP_001341553.1:n.-638_-636delinsCAA
NM_001354625.1:c.-541_-539delinsCAA NP_001341554.1:n.-541_-539delinsCAA
NM_001354626.1:c.-638_-636delinsCAA NP_001341555.1:n.-638_-636delinsCAA
NM_001354627.1:c.-638_-636delinsCAA NP_001341556.1:n.-638_-636delinsCAA
NM_001354628.1:c.189_191delinsCAA NP_001341557.1:p.Asp63=
NM_001354629.1:c.189_191delinsCAA NP_001341558.1:p.Asp63=
NM_001354630.1:c.189_191delinsCAA NP_001341559.1:p.Asp63=
XM_005265161.2:c.189_191delinsCAA XP_005265218.1:p.Asp63=
XM_017006450.2:c.-628_-626delinsCAA XP_016861939.1:n.-628_-626delinsCAA
NM_000249.4:c.189_191delinsCAA MANE Select NP_000240.1:p.Asp63=
NM_001167617.3:c.-101_-99delinsCAA NP_001161089.1:n.-101_-99delinsCAA
NM_001167618.3:c.-535_-533delinsCAA NP_001161090.1:n.-535_-533delinsCAA
NM_001167619.3:c.-443_-441delinsCAA NP_001161091.1:n.-443_-441delinsCAA
NM_001258271.2:c.189_191delinsCAA NP_001245200.1:p.Asp63=
NM_001258273.2:c.-517+3028_-517+3030delinsCAA NP_001245202.1:n.-517+3028_-517+3030delinsCAA
NM_001258274.3:c.-680_-678delinsCAA NP_001245203.1:n.-680_-678delinsCAA
NM_001354615.2:c.-438_-436delinsCAA NP_001341544.1:n.-438_-436delinsCAA
NM_001354616.2:c.-443_-441delinsCAA NP_001341545.1:n.-443_-441delinsCAA
NM_001354617.2:c.-535_-533delinsCAA NP_001341546.1:n.-535_-533delinsCAA
NM_001354618.2:c.-535_-533delinsCAA NP_001341547.1:n.-535_-533delinsCAA
NM_001354619.2:c.-535_-533delinsCAA NP_001341548.1:n.-535_-533delinsCAA
NM_001354620.2:c.-101_-99delinsCAA NP_001341549.1:n.-101_-99delinsCAA
NM_001354621.2:c.-628_-626delinsCAA NP_001341550.1:n.-628_-626delinsCAA
NM_001354622.2:c.-741_-739delinsCAA NP_001341551.1:n.-741_-739delinsCAA
NM_001354623.2:c.-723+2801_-723+2803delinsCAA NP_001341552.1:n.-723+2801_-723+2803delinsCAA
NM_001354624.2:c.-638_-636delinsCAA NP_001341553.1:n.-638_-636delinsCAA
NM_001354625.2:c.-541_-539delinsCAA NP_001341554.1:n.-541_-539delinsCAA
NM_001354626.2:c.-638_-636delinsCAA NP_001341555.1:n.-638_-636delinsCAA
NM_001354627.2:c.-638_-636delinsCAA NP_001341556.1:n.-638_-636delinsCAA
NM_001354628.2:c.189_191delinsCAA NP_001341557.1:p.Asp63=
NM_001354629.2:c.189_191delinsCAA NP_001341558.1:p.Asp63=
NM_001354630.2:c.189_191delinsCAA NP_001341559.1:p.Asp63=
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