Canonical Allele Identifier: CA330922
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90070
ClinVar RCV Id: RCV000075556
dbSNP Id: rs587778982

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050531_37050577dup , CM000665.2:g.37050531_37050577dup GRCh38
NC_000003.11:g.37092022_37092068dup , CM000665.1:g.37092022_37092068dup GRCh37
NC_000003.10:g.37067026_37067072dup NCBI36
NG_007109.2:g.62182_62228dup , LRG_216:g.62182_62228dup

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1713_1759dup ENSP00000416476.2:p.Asn587ArgfsTer6
ENST00000429117.6:c.1855_1901dup ENSP00000407019.2:p.His635AsnfsTer?
ENST00000456676.7:c.1942_1988dup ENSP00000416687.3:p.His664AsnfsTer?
ENST00000492474.6:c.1426_1472dup ENSP00000518393.1:p.His492AsnfsTer?
ENST00000616768.6:c.2056_2102dup ENSP00000480669.3:p.His702AsnfsTer?
ENST00000673673.2:c.1984_2030dup ENSP00000500979.2:p.His678AsnfsTer?
ENST00000231790.8:c.2149_2195dup MANE Select ENSP00000231790.3:p.His733AsnfsTer?
ENST00000413212.2:c.*1067_*1113dup ENSP00000400844.2:n.*1067_*1113dup
ENST00000432299.6:c.*1981_*2027dup ENSP00000416783.1:n.*1981_*2027dup
ENST00000447829.6:c.*1260_*1306dup ENSP00000399329.2:n.*1260_*1306dup
ENST00000539477.6:c.1426_1472dup ENSP00000443665.1:p.His492AsnfsTer?
ENST00000616768.5:c.1093_1139dup ENSP00000480669.2:p.His381AsnfsTer?
ENST00000673673.1:c.1937_1983dup
ENST00000673741.1:n.1183_1229dup
ENST00000673889.1:n.1531_1577dup
ENST00000673897.1:c.*1941_*1987dup ENSP00000501109.1:n.*1941_*1987dup
ENST00000673899.1:c.1417_1463dup ENSP00000501030.1:p.His489AsnfsTer?
ENST00000673947.1:c.*2289_*2335dup ENSP00000501304.1:n.*2289_*2335dup
ENST00000673972.1:c.*2027_*2073dup ENSP00000501281.1:n.*2027_*2073dup
ENST00000674019.1:c.1426_1472dup ENSP00000501081.1:p.His492AsnfsTer?
ENST00000674111.1:c.*378_*424dup ENSP00000501162.1:n.*378_*424dup
ENST00000674125.1:n.860_906dup
ENST00000231790.6:c.2149_2195dup ENSP00000231790.2:p.His733AsnfsTer?
ENST00000435176.5:c.1855_1901dup ENSP00000402564.1:p.His635AsnfsTer?
ENST00000455445.6:c.1426_1472dup ENSP00000398272.2:p.His492AsnfsTer?
ENST00000456676.6:c.1917_1963dup
ENST00000458205.6:c.1426_1472dup ENSP00000402667.2:p.His492AsnfsTer?
ENST00000536378.5:c.1426_1472dup ENSP00000444286.2:p.His492AsnfsTer?
ENST00000539477.5:c.1426_1472dup ENSP00000443665.1:p.His492AsnfsTer?
NM_000249.3:c.2149_2195dup , LRG_216t1:c.2149_2195dup NP_000240.1:p.His733AsnfsTer?
NM_001167617.1:c.1855_1901dup NP_001161089.1:p.His635AsnfsTer?
NM_001167618.1:c.1426_1472dup NP_001161090.1:p.His492AsnfsTer?
NM_001167619.1:c.1426_1472dup NP_001161091.1:p.His492AsnfsTer?
NM_001258271.1:c.1942_1988dup NP_001245200.1:p.His664AsnfsTer?
NM_001258273.1:c.1426_1472dup NP_001245202.1:p.His492AsnfsTer?
NM_001258274.1:c.1426_1472dup NP_001245203.1:p.His492AsnfsTer?
XM_005265161.1:c.1942_1988dup XP_005265218.1:p.His664AsnfsTer?
XM_005265163.1:c.1426_1472dup XP_005265220.1:p.His492AsnfsTer?
XM_005265164.1:c.1426_1472dup XP_005265221.1:p.His492AsnfsTer?
XM_005265166.1:c.1126_1172dup XP_005265223.1:p.His392AsnfsTer?
XM_011533727.1:c.1075_1121dup XP_011532029.1:p.His375AsnfsTer?
NM_001167617.2:c.1855_1901dup NP_001161089.1:p.His635AsnfsTer?
NM_001167618.2:c.1426_1472dup NP_001161090.1:p.His492AsnfsTer?
NM_001167619.2:c.1426_1472dup NP_001161091.1:p.His492AsnfsTer?
NM_001258274.2:c.1426_1472dup NP_001245203.1:p.His492AsnfsTer?
NM_001354615.1:c.1426_1472dup NP_001341544.1:p.His492AsnfsTer?
NM_001354616.1:c.1426_1472dup NP_001341545.1:p.His492AsnfsTer?
NM_001354617.1:c.1426_1472dup NP_001341546.1:p.His492AsnfsTer?
NM_001354618.1:c.1426_1472dup NP_001341547.1:p.His492AsnfsTer?
NM_001354619.1:c.1426_1472dup NP_001341548.1:p.His492AsnfsTer?
NM_001354620.1:c.1855_1901dup NP_001341549.1:p.His635AsnfsTer?
NM_001354621.1:c.1126_1172dup NP_001341550.1:p.His392AsnfsTer?
NM_001354622.1:c.1126_1172dup NP_001341551.1:p.His392AsnfsTer?
NM_001354623.1:c.1126_1172dup NP_001341552.1:p.His392AsnfsTer?
NM_001354624.1:c.1075_1121dup NP_001341553.1:p.His375AsnfsTer?
NM_001354625.1:c.1075_1121dup NP_001341554.1:p.His375AsnfsTer?
NM_001354626.1:c.1075_1121dup NP_001341555.1:p.His375AsnfsTer?
NM_001354627.1:c.1075_1121dup NP_001341556.1:p.His375AsnfsTer?
NM_001354628.1:c.2056_2102dup NP_001341557.1:p.His702AsnfsTer?
NM_001354629.1:c.2050_2096dup NP_001341558.1:p.His700AsnfsTer?
NM_001354630.1:c.1984_2030dup NP_001341559.1:p.His678AsnfsTer?
XM_005265161.2:c.1942_1988dup XP_005265218.1:p.His664AsnfsTer?
XM_017006450.2:c.1126_1172dup XP_016861939.1:p.His392AsnfsTer?
NM_000249.4:c.2149_2195dup MANE Select NP_000240.1:p.His733AsnfsTer?
NM_001167617.3:c.1855_1901dup NP_001161089.1:p.His635AsnfsTer?
NM_001167618.3:c.1426_1472dup NP_001161090.1:p.His492AsnfsTer?
NM_001167619.3:c.1426_1472dup NP_001161091.1:p.His492AsnfsTer?
NM_001258271.2:c.1942_1988dup NP_001245200.1:p.His664AsnfsTer?
NM_001258273.2:c.1426_1472dup NP_001245202.1:p.His492AsnfsTer?
NM_001258274.3:c.1426_1472dup NP_001245203.1:p.His492AsnfsTer?
NM_001354615.2:c.1426_1472dup NP_001341544.1:p.His492AsnfsTer?
NM_001354616.2:c.1426_1472dup NP_001341545.1:p.His492AsnfsTer?
NM_001354617.2:c.1426_1472dup NP_001341546.1:p.His492AsnfsTer?
NM_001354618.2:c.1426_1472dup NP_001341547.1:p.His492AsnfsTer?
NM_001354619.2:c.1426_1472dup NP_001341548.1:p.His492AsnfsTer?
NM_001354620.2:c.1855_1901dup NP_001341549.1:p.His635AsnfsTer?
NM_001354621.2:c.1126_1172dup NP_001341550.1:p.His392AsnfsTer?
NM_001354622.2:c.1126_1172dup NP_001341551.1:p.His392AsnfsTer?
NM_001354623.2:c.1126_1172dup NP_001341552.1:p.His392AsnfsTer?
NM_001354624.2:c.1075_1121dup NP_001341553.1:p.His375AsnfsTer?
NM_001354625.2:c.1075_1121dup NP_001341554.1:p.His375AsnfsTer?
NM_001354626.2:c.1075_1121dup NP_001341555.1:p.His375AsnfsTer?
NM_001354627.2:c.1075_1121dup NP_001341556.1:p.His375AsnfsTer?
NM_001354628.2:c.2056_2102dup NP_001341557.1:p.His702AsnfsTer?
NM_001354629.2:c.2050_2096dup NP_001341558.1:p.His700AsnfsTer?
NM_001354630.2:c.1984_2030dup NP_001341559.1:p.His678AsnfsTer?