Canonical Allele Identifier: CA2580069560
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2027729
ClinVar RCV Id: RCV002858719

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050548dup , CM000665.2:g.37050548dup GRCh38
NC_000003.11:g.37092039dup , CM000665.1:g.37092039dup GRCh37
NC_000003.10:g.37067043dup NCBI36
NG_007109.2:g.62199dup , LRG_216:g.62199dup

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1730dup ENSP00000416476.2:p.Pro578AlafsTer?
ENST00000429117.6:c.1872dup ENSP00000407019.2:p.Ala625SerfsTer10
ENST00000456676.7:c.1959dup ENSP00000416687.3:p.Ala654SerfsTer10
ENST00000492474.6:c.1443dup ENSP00000518393.1:p.Ala482SerfsTer10
ENST00000616768.6:c.2073dup ENSP00000480669.3:p.Ala692SerfsTer10
ENST00000673673.2:c.2001dup ENSP00000500979.2:p.Ala668SerfsTer10
ENST00000231790.8:c.2166dup MANE Select ENSP00000231790.3:p.Ala723SerfsTer10
ENST00000413212.2:c.*1084dup ENSP00000400844.2:n.*1084dup
ENST00000432299.6:c.*1998dup ENSP00000416783.1:n.*1998dup
ENST00000447829.6:c.*1277dup ENSP00000399329.2:n.*1277dup
ENST00000539477.6:c.1443dup ENSP00000443665.1:p.Ala482SerfsTer10
ENST00000616768.5:c.1110dup ENSP00000480669.2:p.Ala371SerfsTer10
ENST00000673673.1:c.1954dup
ENST00000673741.1:n.1200dup
ENST00000673889.1:n.1548dup
ENST00000673897.1:c.*1958dup ENSP00000501109.1:n.*1958dup
ENST00000673899.1:c.1434dup ENSP00000501030.1:p.Ala479SerfsTer10
ENST00000673947.1:c.*2306dup ENSP00000501304.1:n.*2306dup
ENST00000673972.1:c.*2044dup ENSP00000501281.1:n.*2044dup
ENST00000674019.1:c.1443dup ENSP00000501081.1:p.Ala482SerfsTer10
ENST00000674111.1:c.*395dup ENSP00000501162.1:n.*395dup
ENST00000674125.1:n.877dup
ENST00000231790.6:c.2166dup ENSP00000231790.2:p.Ala723SerfsTer10
ENST00000435176.5:c.1872dup ENSP00000402564.1:p.Ala625SerfsTer10
ENST00000455445.6:c.1443dup ENSP00000398272.2:p.Ala482SerfsTer10
ENST00000456676.6:c.1934dup
ENST00000458205.6:c.1443dup ENSP00000402667.2:p.Ala482SerfsTer10
ENST00000536378.5:c.1443dup ENSP00000444286.2:p.Ala482SerfsTer10
ENST00000539477.5:c.1443dup ENSP00000443665.1:p.Ala482SerfsTer10
NM_000249.3:c.2166dup , LRG_216t1:c.2166dup NP_000240.1:p.Ala723SerfsTer10
NM_001167617.1:c.1872dup NP_001161089.1:p.Ala625SerfsTer10
NM_001167618.1:c.1443dup NP_001161090.1:p.Ala482SerfsTer10
NM_001167619.1:c.1443dup NP_001161091.1:p.Ala482SerfsTer10
NM_001258271.1:c.1959dup NP_001245200.1:p.Ala654SerfsTer10
NM_001258273.1:c.1443dup NP_001245202.1:p.Ala482SerfsTer10
NM_001258274.1:c.1443dup NP_001245203.1:p.Ala482SerfsTer10
XM_005265161.1:c.1959dup XP_005265218.1:p.Ala654SerfsTer10
XM_005265163.1:c.1443dup XP_005265220.1:p.Ala482SerfsTer10
XM_005265164.1:c.1443dup XP_005265221.1:p.Ala482SerfsTer10
XM_005265166.1:c.1143dup XP_005265223.1:p.Ala382SerfsTer10
XM_011533727.1:c.1092dup XP_011532029.1:p.Ala365SerfsTer10
NM_001167617.2:c.1872dup NP_001161089.1:p.Ala625SerfsTer10
NM_001167618.2:c.1443dup NP_001161090.1:p.Ala482SerfsTer10
NM_001167619.2:c.1443dup NP_001161091.1:p.Ala482SerfsTer10
NM_001258274.2:c.1443dup NP_001245203.1:p.Ala482SerfsTer10
NM_001354615.1:c.1443dup NP_001341544.1:p.Ala482SerfsTer10
NM_001354616.1:c.1443dup NP_001341545.1:p.Ala482SerfsTer10
NM_001354617.1:c.1443dup NP_001341546.1:p.Ala482SerfsTer10
NM_001354618.1:c.1443dup NP_001341547.1:p.Ala482SerfsTer10
NM_001354619.1:c.1443dup NP_001341548.1:p.Ala482SerfsTer10
NM_001354620.1:c.1872dup NP_001341549.1:p.Ala625SerfsTer10
NM_001354621.1:c.1143dup NP_001341550.1:p.Ala382SerfsTer10
NM_001354622.1:c.1143dup NP_001341551.1:p.Ala382SerfsTer10
NM_001354623.1:c.1143dup NP_001341552.1:p.Ala382SerfsTer10
NM_001354624.1:c.1092dup NP_001341553.1:p.Ala365SerfsTer10
NM_001354625.1:c.1092dup NP_001341554.1:p.Ala365SerfsTer10
NM_001354626.1:c.1092dup NP_001341555.1:p.Ala365SerfsTer10
NM_001354627.1:c.1092dup NP_001341556.1:p.Ala365SerfsTer10
NM_001354628.1:c.2073dup NP_001341557.1:p.Ala692SerfsTer10
NM_001354629.1:c.2067dup NP_001341558.1:p.Ala690SerfsTer10
NM_001354630.1:c.2001dup NP_001341559.1:p.Ala668SerfsTer10
XM_005265161.2:c.1959dup XP_005265218.1:p.Ala654SerfsTer10
XM_017006450.2:c.1143dup XP_016861939.1:p.Ala382SerfsTer10
NM_000249.4:c.2166dup MANE Select NP_000240.1:p.Ala723SerfsTer10
NM_001167617.3:c.1872dup NP_001161089.1:p.Ala625SerfsTer10
NM_001167618.3:c.1443dup NP_001161090.1:p.Ala482SerfsTer10
NM_001167619.3:c.1443dup NP_001161091.1:p.Ala482SerfsTer10
NM_001258271.2:c.1959dup NP_001245200.1:p.Ala654SerfsTer10
NM_001258273.2:c.1443dup NP_001245202.1:p.Ala482SerfsTer10
NM_001258274.3:c.1443dup NP_001245203.1:p.Ala482SerfsTer10
NM_001354615.2:c.1443dup NP_001341544.1:p.Ala482SerfsTer10
NM_001354616.2:c.1443dup NP_001341545.1:p.Ala482SerfsTer10
NM_001354617.2:c.1443dup NP_001341546.1:p.Ala482SerfsTer10
NM_001354618.2:c.1443dup NP_001341547.1:p.Ala482SerfsTer10
NM_001354619.2:c.1443dup NP_001341548.1:p.Ala482SerfsTer10
NM_001354620.2:c.1872dup NP_001341549.1:p.Ala625SerfsTer10
NM_001354621.2:c.1143dup NP_001341550.1:p.Ala382SerfsTer10
NM_001354622.2:c.1143dup NP_001341551.1:p.Ala382SerfsTer10
NM_001354623.2:c.1143dup NP_001341552.1:p.Ala382SerfsTer10
NM_001354624.2:c.1092dup NP_001341553.1:p.Ala365SerfsTer10
NM_001354625.2:c.1092dup NP_001341554.1:p.Ala365SerfsTer10
NM_001354626.2:c.1092dup NP_001341555.1:p.Ala365SerfsTer10
NM_001354627.2:c.1092dup NP_001341556.1:p.Ala365SerfsTer10
NM_001354628.2:c.2073dup NP_001341557.1:p.Ala692SerfsTer10
NM_001354629.2:c.2067dup NP_001341558.1:p.Ala690SerfsTer10
NM_001354630.2:c.2001dup NP_001341559.1:p.Ala668SerfsTer10