Canonical Allele Identifier: CA2573136329
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452609
ClinVar RCV Id: RCV001999897 RCV003453848
dbSNP Id: rs2125735738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000974dup , CM000665.2:g.37000974dup GRCh38
NC_000003.11:g.37042465dup , CM000665.1:g.37042465dup GRCh37
NC_000003.10:g.37017469dup NCBI36
NG_007109.2:g.12625dup , LRG_216:g.12625dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.227dup ENSP00000416476.2:p.Cys77MetfsTer2
ENST00000429117.6:c.-63dup ENSP00000407019.2:n.-63dup
ENST00000450420.6:c.227dup ENSP00000393006.2:p.Cys77MetfsTer2
ENST00000456676.7:c.227dup ENSP00000416687.3:p.Cys77MetfsTer2
ENST00000458009.6:c.227dup ENSP00000411066.2:p.Cys77MetfsTer2
ENST00000492474.6:c.-497dup ENSP00000518393.1:n.-497dup
ENST00000616768.6:c.227dup ENSP00000480669.3:p.Cys77MetfsTer2
ENST00000673673.2:c.227dup ENSP00000500979.2:p.Cys77MetfsTer2
ENST00000231790.8:c.227dup MANE Select ENSP00000231790.3:p.Cys77MetfsTer2
ENST00000413212.2:c.-497dup ENSP00000400844.2:n.-497dup
ENST00000432299.6:c.*307dup ENSP00000416783.1:n.*307dup
ENST00000441265.6:c.-497dup ENSP00000398392.2:n.-497dup
ENST00000442249.6:n.242dup
ENST00000447829.6:c.-63dup ENSP00000399329.2:n.-63dup
ENST00000539477.6:c.-405dup ENSP00000443665.1:n.-405dup
ENST00000673673.1:c.180dup
ENST00000673713.1:n.258dup
ENST00000673715.1:c.227dup ENSP00000501301.1:p.Cys77MetfsTer2
ENST00000673897.1:c.*19dup ENSP00000501109.1:n.*19dup
ENST00000673899.1:c.227dup ENSP00000501030.1:p.Cys77MetfsTer2
ENST00000673947.1:c.*367dup ENSP00000501304.1:n.*367dup
ENST00000673972.1:c.*105dup ENSP00000501281.1:n.*105dup
ENST00000673990.1:n.212dup
ENST00000674019.1:c.-497dup ENSP00000501081.1:n.-497dup
ENST00000674107.1:n.169dup
ENST00000674111.1:c.227dup ENSP00000501162.1:p.Cys77MetfsTer2
ENST00000231790.6:c.227dup ENSP00000231790.2:p.Cys77MetfsTer2
ENST00000429117.5:c.-63dup ENSP00000407019.1:n.-63dup
ENST00000432299.5:c.*307dup ENSP00000416783.1:n.*307dup
ENST00000435176.5:c.-63dup ENSP00000402564.1:n.-63dup
ENST00000441265.5:c.-405dup ENSP00000398392.1:n.-405dup
ENST00000442249.5:c.*19dup ENSP00000387511.1:n.*19dup
ENST00000454028.5:c.*105dup ENSP00000392649.1:n.*105dup
ENST00000455445.6:c.-497dup ENSP00000398272.2:n.-497dup
ENST00000456676.6:c.202dup
ENST00000457004.5:c.*86-3427dup ENSP00000407773.1:n.*86-3427dup
ENST00000458205.6:c.-497dup ENSP00000402667.2:n.-497dup
ENST00000466900.5:n.154dup
ENST00000476172.5:n.349dup
ENST00000485889.1:n.231dup
ENST00000492474.5:n.250dup
ENST00000536378.5:c.-497dup ENSP00000444286.2:n.-497dup
ENST00000539477.5:c.-405dup ENSP00000443665.1:n.-405dup
NM_000249.3:c.227dup , LRG_216t1:c.227dup NP_000240.1:p.Cys77MetfsTer2
NM_001167617.1:c.-63dup NP_001161089.1:n.-63dup
NM_001167618.1:c.-497dup NP_001161090.1:n.-497dup
NM_001167619.1:c.-405dup NP_001161091.1:n.-405dup
NM_001258271.1:c.227dup NP_001245200.1:p.Cys77MetfsTer2
NM_001258273.1:c.-497dup NP_001245202.1:n.-497dup
NM_001258274.1:c.-497dup NP_001245203.1:n.-497dup
XM_005265161.1:c.227dup XP_005265218.1:p.Cys77MetfsTer2
XM_005265163.1:c.-497dup XP_005265220.1:n.-497dup
XM_005265164.1:c.-497dup XP_005265221.1:n.-497dup
XM_005265166.1:c.-703dup XP_005265223.1:n.-703dup
XM_011533727.1:c.-600dup XP_011532029.1:n.-600dup
NM_001167617.2:c.-63dup NP_001161089.1:n.-63dup
NM_001167618.2:c.-497dup NP_001161090.1:n.-497dup
NM_001167619.2:c.-405dup NP_001161091.1:n.-405dup
NM_001258274.2:c.-497dup NP_001245203.1:n.-497dup
NM_001354615.1:c.-400dup NP_001341544.1:n.-400dup
NM_001354616.1:c.-405dup NP_001341545.1:n.-405dup
NM_001354617.1:c.-497dup NP_001341546.1:n.-497dup
NM_001354618.1:c.-497dup NP_001341547.1:n.-497dup
NM_001354619.1:c.-497dup NP_001341548.1:n.-497dup
NM_001354620.1:c.-63dup NP_001341549.1:n.-63dup
NM_001354621.1:c.-590dup NP_001341550.1:n.-590dup
NM_001354622.1:c.-703dup NP_001341551.1:n.-703dup
NM_001354623.1:c.-703dup NP_001341552.1:n.-703dup
NM_001354624.1:c.-600dup NP_001341553.1:n.-600dup
NM_001354625.1:c.-503dup NP_001341554.1:n.-503dup
NM_001354626.1:c.-600dup NP_001341555.1:n.-600dup
NM_001354627.1:c.-600dup NP_001341556.1:n.-600dup
NM_001354628.1:c.227dup NP_001341557.1:p.Cys77MetfsTer2
NM_001354629.1:c.208-3427dup NP_001341558.1:n.208-3427dup
NM_001354630.1:c.227dup NP_001341559.1:p.Cys77MetfsTer2
XM_005265161.2:c.227dup XP_005265218.1:p.Cys77MetfsTer2
XM_017006450.2:c.-590dup XP_016861939.1:n.-590dup
NM_000249.4:c.227dup MANE Select NP_000240.1:p.Cys77MetfsTer2
NM_001167617.3:c.-63dup NP_001161089.1:n.-63dup
NM_001167618.3:c.-497dup NP_001161090.1:n.-497dup
NM_001167619.3:c.-405dup NP_001161091.1:n.-405dup
NM_001258271.2:c.227dup NP_001245200.1:p.Cys77MetfsTer2
NM_001258273.2:c.-497dup NP_001245202.1:n.-497dup
NM_001258274.3:c.-497dup NP_001245203.1:n.-497dup
NM_001354615.2:c.-400dup NP_001341544.1:n.-400dup
NM_001354616.2:c.-405dup NP_001341545.1:n.-405dup
NM_001354617.2:c.-497dup NP_001341546.1:n.-497dup
NM_001354618.2:c.-497dup NP_001341547.1:n.-497dup
NM_001354619.2:c.-497dup NP_001341548.1:n.-497dup
NM_001354620.2:c.-63dup NP_001341549.1:n.-63dup
NM_001354621.2:c.-590dup NP_001341550.1:n.-590dup
NM_001354622.2:c.-703dup NP_001341551.1:n.-703dup
NM_001354623.2:c.-703dup NP_001341552.1:n.-703dup
NM_001354624.2:c.-600dup NP_001341553.1:n.-600dup
NM_001354625.2:c.-503dup NP_001341554.1:n.-503dup
NM_001354626.2:c.-600dup NP_001341555.1:n.-600dup
NM_001354627.2:c.-600dup NP_001341556.1:n.-600dup
NM_001354628.2:c.227dup NP_001341557.1:p.Cys77MetfsTer2
NM_001354629.2:c.208-3427dup NP_001341558.1:n.208-3427dup
NM_001354630.2:c.227dup NP_001341559.1:p.Cys77MetfsTer2
Search 100 bp 5'
Search 100 bp 3'