Canonical Allele Identifier: CA72811422
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782739
ClinVar RCV Id: RCV002410772
dbSNP Id: rs63750884
PubMed: PMID:8956057
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37048544_37048545del , CM000665.2:g.37048544_37048545del GRCh38
NC_000003.11:g.37090035_37090036del , CM000665.1:g.37090035_37090036del GRCh37
NC_000003.10:g.37065039_37065040del NCBI36
NG_007109.2:g.60195_60196del , LRG_216:g.60195_60196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1668-1942_1668-1941del ENSP00000416476.2:n.1668-1942_1668-1941del
ENST00000429117.6:c.1630_1631del ENSP00000407019.2:p.Leu544AspfsTer2
ENST00000450420.6:c.1559-1942_1559-1941del ENSP00000393006.2:n.1559-1942_1559-1941del
ENST00000456676.7:c.1896+861_1896+862del ENSP00000416687.3:n.1896+861_1896+862del
ENST00000492474.6:c.1201_1202del ENSP00000518393.1:p.Leu401AspfsTer2
ENST00000616768.6:c.1897-360_1897-359del ENSP00000480669.3:n.1897-360_1897-359del
ENST00000673673.2:c.1759_1760del ENSP00000500979.2:p.Leu587AspfsTer2
ENST00000231790.8:c.1924_1925del MANE Select ENSP00000231790.3:p.Leu642AspfsTer2
ENST00000413212.2:c.*842_*843del ENSP00000400844.2:n.*842_*843del
ENST00000432299.6:c.*1756_*1757del ENSP00000416783.1:n.*1756_*1757del
ENST00000447829.6:c.*1035_*1036del ENSP00000399329.2:n.*1035_*1036del
ENST00000539477.6:c.1201_1202del ENSP00000443665.1:p.Leu401AspfsTer2
ENST00000616768.5:c.934-360_934-359del ENSP00000480669.2:n.934-360_934-359del
ENST00000673673.1:c.1712_1713del
ENST00000673741.1:n.958_959del
ENST00000673889.1:n.1306_1307del
ENST00000673897.1:c.*1716_*1717del ENSP00000501109.1:n.*1716_*1717del
ENST00000673899.1:c.1192_1193del ENSP00000501030.1:p.Leu398AspfsTer2
ENST00000673947.1:c.*2064_*2065del ENSP00000501304.1:n.*2064_*2065del
ENST00000673972.1:c.*1802_*1803del ENSP00000501281.1:n.*1802_*1803del
ENST00000674019.1:c.1201_1202del ENSP00000501081.1:p.Leu401AspfsTer2
ENST00000674111.1:c.*153_*154del ENSP00000501162.1:n.*153_*154del
ENST00000674125.1:n.635_636del
ENST00000231790.6:c.1924_1925del ENSP00000231790.2:p.Leu642AspfsTer2
ENST00000413740.1:c.291-1942_291-1941del ENSP00000416476.1:n.291-1942_291-1941del
ENST00000435176.5:c.1630_1631del ENSP00000402564.1:p.Leu544AspfsTer2
ENST00000450420.5:c.182-1942_182-1941del ENSP00000393006.1:n.182-1942_182-1941del
ENST00000455445.6:c.1201_1202del ENSP00000398272.2:p.Leu401AspfsTer2
ENST00000456676.6:c.1871+861_1871+862del
ENST00000458205.6:c.1201_1202del ENSP00000402667.2:p.Leu401AspfsTer2
ENST00000536378.5:c.1201_1202del ENSP00000444286.2:p.Leu401AspfsTer2
ENST00000539477.5:c.1201_1202del ENSP00000443665.1:p.Leu401AspfsTer2
NM_000249.3:c.1924_1925del , LRG_216t1:c.1924_1925del NP_000240.1:p.Leu642AspfsTer2
NM_001167617.1:c.1630_1631del NP_001161089.1:p.Leu544AspfsTer2
NM_001167618.1:c.1201_1202del NP_001161090.1:p.Leu401AspfsTer2
NM_001167619.1:c.1201_1202del NP_001161091.1:p.Leu401AspfsTer2
NM_001258271.1:c.1896+861_1896+862del NP_001245200.1:n.1896+861_1896+862del
NM_001258273.1:c.1201_1202del NP_001245202.1:p.Leu401AspfsTer2
NM_001258274.1:c.1201_1202del NP_001245203.1:p.Leu401AspfsTer2
XM_005265161.1:c.1717_1718del XP_005265218.1:p.Leu573AspfsTer2
XM_005265163.1:c.1201_1202del XP_005265220.1:p.Leu401AspfsTer2
XM_005265164.1:c.1201_1202del XP_005265221.1:p.Leu401AspfsTer2
XM_005265166.1:c.901_902del XP_005265223.1:p.Leu301AspfsTer2
XM_011533727.1:c.850_851del XP_011532029.1:p.Leu284AspfsTer2
NM_001167617.2:c.1630_1631del NP_001161089.1:p.Leu544AspfsTer2
NM_001167618.2:c.1201_1202del NP_001161090.1:p.Leu401AspfsTer2
NM_001167619.2:c.1201_1202del NP_001161091.1:p.Leu401AspfsTer2
NM_001258274.2:c.1201_1202del NP_001245203.1:p.Leu401AspfsTer2
NM_001354615.1:c.1201_1202del NP_001341544.1:p.Leu401AspfsTer2
NM_001354616.1:c.1201_1202del NP_001341545.1:p.Leu401AspfsTer2
NM_001354617.1:c.1201_1202del NP_001341546.1:p.Leu401AspfsTer2
NM_001354618.1:c.1201_1202del NP_001341547.1:p.Leu401AspfsTer2
NM_001354619.1:c.1201_1202del NP_001341548.1:p.Leu401AspfsTer2
NM_001354620.1:c.1630_1631del NP_001341549.1:p.Leu544AspfsTer2
NM_001354621.1:c.901_902del NP_001341550.1:p.Leu301AspfsTer2
NM_001354622.1:c.901_902del NP_001341551.1:p.Leu301AspfsTer2
NM_001354623.1:c.901_902del NP_001341552.1:p.Leu301AspfsTer2
NM_001354624.1:c.850_851del NP_001341553.1:p.Leu284AspfsTer2
NM_001354625.1:c.850_851del NP_001341554.1:p.Leu284AspfsTer2
NM_001354626.1:c.850_851del NP_001341555.1:p.Leu284AspfsTer2
NM_001354627.1:c.850_851del NP_001341556.1:p.Leu284AspfsTer2
NM_001354628.1:c.1897-360_1897-359del NP_001341557.1:n.1897-360_1897-359del
NM_001354629.1:c.1825_1826del NP_001341558.1:p.Leu609AspfsTer2
NM_001354630.1:c.1759_1760del NP_001341559.1:p.Leu587AspfsTer2
XM_005265161.2:c.1717_1718del XP_005265218.1:p.Leu573AspfsTer2
XM_017006450.2:c.901_902del XP_016861939.1:p.Leu301AspfsTer2
NM_000249.4:c.1924_1925del MANE Select NP_000240.1:p.Leu642AspfsTer2
NM_001167617.3:c.1630_1631del NP_001161089.1:p.Leu544AspfsTer2
NM_001167618.3:c.1201_1202del NP_001161090.1:p.Leu401AspfsTer2
NM_001167619.3:c.1201_1202del NP_001161091.1:p.Leu401AspfsTer2
NM_001258271.2:c.1896+861_1896+862del NP_001245200.1:n.1896+861_1896+862del
NM_001258273.2:c.1201_1202del NP_001245202.1:p.Leu401AspfsTer2
NM_001258274.3:c.1201_1202del NP_001245203.1:p.Leu401AspfsTer2
NM_001354615.2:c.1201_1202del NP_001341544.1:p.Leu401AspfsTer2
NM_001354616.2:c.1201_1202del NP_001341545.1:p.Leu401AspfsTer2
NM_001354617.2:c.1201_1202del NP_001341546.1:p.Leu401AspfsTer2
NM_001354618.2:c.1201_1202del NP_001341547.1:p.Leu401AspfsTer2
NM_001354619.2:c.1201_1202del NP_001341548.1:p.Leu401AspfsTer2
NM_001354620.2:c.1630_1631del NP_001341549.1:p.Leu544AspfsTer2
NM_001354621.2:c.901_902del NP_001341550.1:p.Leu301AspfsTer2
NM_001354622.2:c.901_902del NP_001341551.1:p.Leu301AspfsTer2
NM_001354623.2:c.901_902del NP_001341552.1:p.Leu301AspfsTer2
NM_001354624.2:c.850_851del NP_001341553.1:p.Leu284AspfsTer2
NM_001354625.2:c.850_851del NP_001341554.1:p.Leu284AspfsTer2
NM_001354626.2:c.850_851del NP_001341555.1:p.Leu284AspfsTer2
NM_001354627.2:c.850_851del NP_001341556.1:p.Leu284AspfsTer2
NM_001354628.2:c.1897-360_1897-359del NP_001341557.1:n.1897-360_1897-359del
NM_001354629.2:c.1825_1826del NP_001341558.1:p.Leu609AspfsTer2
NM_001354630.2:c.1759_1760del NP_001341559.1:p.Leu587AspfsTer2
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