Canonical Allele Identifier: CA2595701830
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v3: 3-36993786-GA-G
gnomAD v4: 3-36993786-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993787del , CM000665.2:g.36993787del GRCh38
NC_000003.11:g.37035278del , CM000665.1:g.37035278del GRCh37
NC_000003.10:g.37010282del NCBI36
NG_007109.2:g.5438del , LRG_216:g.5438del
NG_008418.1:g.4518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.116+124del ENSP00000416476.2:n.116+124del
ENST00000450420.6:c.116+124del ENSP00000393006.2:n.116+124del
ENST00000456676.7:c.116+124del ENSP00000416687.3:n.116+124del
ENST00000458009.6:c.116+124del ENSP00000411066.2:n.116+124del
ENST00000616768.6:c.116+124del ENSP00000480669.3:n.116+124del
ENST00000673673.2:c.116+124del ENSP00000500979.2:n.116+124del
ENST00000231790.8:c.116+124del MANE Select ENSP00000231790.3:n.116+124del
ENST00000413212.2:c.-711del ENSP00000400844.2:n.-711del
ENST00000432299.6:c.*93del ENSP00000416783.1:n.*93del
ENST00000442249.6:n.131+124del
ENST00000447829.6:c.-277del ENSP00000399329.2:n.-277del
ENST00000476172.6:n.3del
ENST00000673673.1:c.69+124del
ENST00000673686.1:n.3del
ENST00000673713.1:n.147+124del
ENST00000673715.1:c.116+124del ENSP00000501301.1:n.116+124del
ENST00000673897.1:c.116+124del ENSP00000501109.1:n.116+124del
ENST00000673899.1:c.116+124del ENSP00000501030.1:n.116+124del
ENST00000673947.1:c.116+124del ENSP00000501304.1:n.116+124del
ENST00000673972.1:c.116+124del ENSP00000501281.1:n.116+124del
ENST00000673990.1:n.3del
ENST00000674019.1:c.-835del ENSP00000501081.1:n.-835del
ENST00000674111.1:c.116+124del ENSP00000501162.1:n.116+124del
ENST00000231790.6:c.116+124del ENSP00000231790.2:n.116+124del
ENST00000432299.5:c.*93del ENSP00000416783.1:n.*93del
ENST00000442249.5:c.116+124del ENSP00000387511.1:n.116+124del
ENST00000454028.5:c.116+124del ENSP00000392649.1:n.116+124del
ENST00000456676.6:c.91+124del
ENST00000457004.5:c.116+124del ENSP00000407773.1:n.116+124del
ENST00000458205.6:c.-856del ENSP00000402667.2:n.-856del
ENST00000476172.5:n.11del
ENST00000536378.5:c.-517+124del ENSP00000444286.2:n.-517+124del
ENST00000539477.5:c.-619del ENSP00000443665.1:n.-619del
NM_000249.3:c.116+124del , LRG_216t1:c.116+124del NP_000240.1:n.116+124del
NM_001167617.1:c.-277del NP_001161089.1:n.-277del
NM_001167618.1:c.-706del NP_001161090.1:n.-706del
NM_001167619.1:c.-619del NP_001161091.1:n.-619del
NM_001258271.1:c.116+124del NP_001245200.1:n.116+124del
NM_001258273.1:c.-517+124del NP_001245202.1:n.-517+124del
NM_001258274.1:c.-856del NP_001245203.1:n.-856del
XM_005265161.1:c.116+124del XP_005265218.1:n.116+124del
XM_005265163.1:c.-711del XP_005265220.1:n.-711del
XM_005265164.1:c.-603+124del XP_005265221.1:n.-603+124del
XM_005265166.1:c.-917del XP_005265223.1:n.-917del
XM_011533727.1:c.-814del XP_011532029.1:n.-814del
NM_001167617.2:c.-277del NP_001161089.1:n.-277del
NM_001167618.2:c.-706del NP_001161090.1:n.-706del
NM_001167619.2:c.-619del NP_001161091.1:n.-619del
NM_001258274.2:c.-856del NP_001245203.1:n.-856del
NM_001354615.1:c.-511+124del NP_001341544.1:n.-511+124del
NM_001354616.1:c.-511+124del NP_001341545.1:n.-511+124del
NM_001354617.1:c.-603+124del NP_001341546.1:n.-603+124del
NM_001354618.1:c.-711del NP_001341547.1:n.-711del
NM_001354619.1:c.-835del NP_001341548.1:n.-835del
NM_001354620.1:c.-169+124del NP_001341549.1:n.-169+124del
NM_001354621.1:c.-804del NP_001341550.1:n.-804del
NM_001354622.1:c.-917del NP_001341551.1:n.-917del
NM_001354623.1:c.-826del NP_001341552.1:n.-826del
NM_001354624.1:c.-711+124del NP_001341553.1:n.-711+124del
NM_001354625.1:c.-609+124del NP_001341554.1:n.-609+124del
NM_001354626.1:c.-706+124del NP_001341555.1:n.-706+124del
NM_001354627.1:c.-814del NP_001341556.1:n.-814del
NM_001354628.1:c.116+124del NP_001341557.1:n.116+124del
NM_001354629.1:c.116+124del NP_001341558.1:n.116+124del
NM_001354630.1:c.116+124del NP_001341559.1:n.116+124del
XM_005265161.2:c.116+124del XP_005265218.1:n.116+124del
XM_017006450.2:c.-696+124del XP_016861939.1:n.-696+124del
NM_000249.4:c.116+124del MANE Select NP_000240.1:n.116+124del
NM_001167617.3:c.-277del NP_001161089.1:n.-277del
NM_001167618.3:c.-706del NP_001161090.1:n.-706del
NM_001167619.3:c.-619del NP_001161091.1:n.-619del
NM_001258271.2:c.116+124del NP_001245200.1:n.116+124del
NM_001258273.2:c.-517+124del NP_001245202.1:n.-517+124del
NM_001258274.3:c.-856del NP_001245203.1:n.-856del
NM_001354615.2:c.-511+124del NP_001341544.1:n.-511+124del
NM_001354616.2:c.-511+124del NP_001341545.1:n.-511+124del
NM_001354617.2:c.-603+124del NP_001341546.1:n.-603+124del
NM_001354618.2:c.-711del NP_001341547.1:n.-711del
NM_001354619.2:c.-835del NP_001341548.1:n.-835del
NM_001354620.2:c.-169+124del NP_001341549.1:n.-169+124del
NM_001354621.2:c.-804del NP_001341550.1:n.-804del
NM_001354622.2:c.-917del NP_001341551.1:n.-917del
NM_001354623.2:c.-826del NP_001341552.1:n.-826del
NM_001354624.2:c.-711+124del NP_001341553.1:n.-711+124del
NM_001354625.2:c.-609+124del NP_001341554.1:n.-609+124del
NM_001354626.2:c.-706+124del NP_001341555.1:n.-706+124del
NM_001354627.2:c.-814del NP_001341556.1:n.-814del
NM_001354628.2:c.116+124del NP_001341557.1:n.116+124del
NM_001354629.2:c.116+124del NP_001341558.1:n.116+124del
NM_001354630.2:c.116+124del NP_001341559.1:n.116+124del
Search 100 bp 5'
Search 100 bp 3'