Canonical Allele Identifier: CA006405
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89841
ClinVar RCV Id: RCV000075315 RCV000524872
dbSNP Id: rs267607849
MyVariant Identifiers: chr3:g.37083781_37083784del (hg19) chr3:g.37042290_37042293del (hg38)
PubMed: PMID:18772310 PMID:28874130
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37042290_37042293del , CM000665.2:g.37042290_37042293del GRCh38
NC_000003.11:g.37083781_37083784del , CM000665.1:g.37083781_37083784del GRCh37
NC_000003.10:g.37058785_37058788del NCBI36
NG_007109.2:g.53941_53944del , LRG_216:g.53941_53944del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1667+1996_1667+1999del ENSP00000416476.2:n.1667+1996_1667+1999de...
ENST00000429117.6:c.1396_1399del ENSP00000407019.2:p.Leu466PhefsTer26
ENST00000450420.6:c.1559-8196_1559-8193del ENSP00000393006.2:n.1559-8196_1559-8193de...
ENST00000456676.7:c.1690_1693del ENSP00000416687.3:p.Leu564PhefsTer26
ENST00000492474.6:c.967_970del ENSP00000518393.1:p.Leu323PhefsTer26
ENST00000616768.6:c.1690_1693del ENSP00000480669.3:p.Leu564PhefsTer26
ENST00000673673.2:c.1690_1693del ENSP00000500979.2:p.Leu564PhefsTer17
ENST00000231790.8:c.1690_1693del MANE Select ENSP00000231790.3:p.Leu564PhefsTer26
ENST00000413212.2:c.*608_*611del ENSP00000400844.2:n.*608_*611del
ENST00000432299.6:c.*1522_*1525del ENSP00000416783.1:n.*1522_*1525del
ENST00000441265.6:c.944+1996_944+1999del ENSP00000398392.2:n.944+1996_944+1999del
ENST00000447829.6:c.*801_*804del ENSP00000399329.2:n.*801_*804del
ENST00000539477.6:c.967_970del ENSP00000443665.1:p.Leu323PhefsTer26
ENST00000616768.5:c.727_730del ENSP00000480669.2:p.Leu243PhefsTer26
ENST00000673673.1:c.1643_1646del
ENST00000673715.1:c.1690_1693del ENSP00000501301.1:p.Leu564PhefsTer26
ENST00000673889.1:n.1072_1075del
ENST00000673897.1:c.*1482_*1485del ENSP00000501109.1:n.*1482_*1485del
ENST00000673899.1:c.958_961del ENSP00000501030.1:p.Leu320PhefsTer26
ENST00000673947.1:c.*1830_*1833del ENSP00000501304.1:n.*1830_*1833del
ENST00000673972.1:c.*1568_*1571del ENSP00000501281.1:n.*1568_*1571del
ENST00000673990.1:n.1581_1584del
ENST00000674019.1:c.967_970del ENSP00000501081.1:p.Leu323PhefsTer26
ENST00000674111.1:c.1667+1996_1667+1999del ENSP00000501162.1:n.1667+1996_1667+1999de...
ENST00000674125.1:n.401_404del
ENST00000231790.6:c.1690_1693del ENSP00000231790.2:p.Leu564PhefsTer26
ENST00000413740.1:c.290+1996_290+1999del ENSP00000416476.1:n.290+1996_290+1999del
ENST00000435176.5:c.1396_1399del ENSP00000402564.1:p.Leu466PhefsTer26
ENST00000450420.5:c.182-8196_182-8193del ENSP00000393006.1:n.182-8196_182-8193del
ENST00000455445.6:c.967_970del ENSP00000398272.2:p.Leu323PhefsTer26
ENST00000456676.6:c.1665_1668del
ENST00000458205.6:c.967_970del ENSP00000402667.2:p.Leu323PhefsTer26
ENST00000536378.5:c.967_970del ENSP00000444286.2:p.Leu323PhefsTer26
ENST00000539477.5:c.967_970del ENSP00000443665.1:p.Leu323PhefsTer26
ENST00000616768.4:c.458_461del
NM_000249.3:c.1690_1693del , LRG_216t1:c.1690_1693del NP_000240.1:p.Leu564PhefsTer26
NM_001167617.1:c.1396_1399del NP_001161089.1:p.Leu466PhefsTer26
NM_001167618.1:c.967_970del NP_001161090.1:p.Leu323PhefsTer26
NM_001167619.1:c.967_970del NP_001161091.1:p.Leu323PhefsTer26
NM_001258271.1:c.1690_1693del NP_001245200.1:p.Leu564PhefsTer26
NM_001258273.1:c.967_970del NP_001245202.1:p.Leu323PhefsTer26
NM_001258274.1:c.967_970del NP_001245203.1:p.Leu323PhefsTer26
XM_005265161.1:c.1483_1486del XP_005265218.1:p.Leu495PhefsTer26
XM_005265163.1:c.967_970del XP_005265220.1:p.Leu323PhefsTer26
XM_005265164.1:c.967_970del XP_005265221.1:p.Leu323PhefsTer26
XM_005265166.1:c.667_670del XP_005265223.1:p.Leu223PhefsTer26
XM_011533727.1:c.616_619del XP_011532029.1:p.Leu206PhefsTer26
NM_001167617.2:c.1396_1399del NP_001161089.1:p.Leu466PhefsTer26
NM_001167618.2:c.967_970del NP_001161090.1:p.Leu323PhefsTer26
NM_001167619.2:c.967_970del NP_001161091.1:p.Leu323PhefsTer26
NM_001258274.2:c.967_970del NP_001245203.1:p.Leu323PhefsTer26
NM_001354615.1:c.967_970del NP_001341544.1:p.Leu323PhefsTer26
NM_001354616.1:c.967_970del NP_001341545.1:p.Leu323PhefsTer26
NM_001354617.1:c.967_970del NP_001341546.1:p.Leu323PhefsTer26
NM_001354618.1:c.967_970del NP_001341547.1:p.Leu323PhefsTer26
NM_001354619.1:c.967_970del NP_001341548.1:p.Leu323PhefsTer26
NM_001354620.1:c.1396_1399del NP_001341549.1:p.Leu466PhefsTer26
NM_001354621.1:c.667_670del NP_001341550.1:p.Leu223PhefsTer26
NM_001354622.1:c.667_670del NP_001341551.1:p.Leu223PhefsTer26
NM_001354623.1:c.667_670del NP_001341552.1:p.Leu223PhefsTer26
NM_001354624.1:c.616_619del NP_001341553.1:p.Leu206PhefsTer26
NM_001354625.1:c.616_619del NP_001341554.1:p.Leu206PhefsTer26
NM_001354626.1:c.616_619del NP_001341555.1:p.Leu206PhefsTer26
NM_001354627.1:c.616_619del NP_001341556.1:p.Leu206PhefsTer26
NM_001354628.1:c.1690_1693del NP_001341557.1:p.Leu564PhefsTer26
NM_001354629.1:c.1591_1594del NP_001341558.1:p.Leu531PhefsTer26
NM_001354630.1:c.1690_1693del NP_001341559.1:p.Leu564PhefsTer17
XM_005265161.2:c.1483_1486del XP_005265218.1:p.Leu495PhefsTer26
XM_017006450.2:c.667_670del XP_016861939.1:p.Leu223PhefsTer26
NM_000249.4:c.1690_1693del MANE Select NP_000240.1:p.Leu564PhefsTer26
NM_001167617.3:c.1396_1399del NP_001161089.1:p.Leu466PhefsTer26
NM_001167618.3:c.967_970del NP_001161090.1:p.Leu323PhefsTer26
NM_001167619.3:c.967_970del NP_001161091.1:p.Leu323PhefsTer26
NM_001258271.2:c.1690_1693del NP_001245200.1:p.Leu564PhefsTer26
NM_001258273.2:c.967_970del NP_001245202.1:p.Leu323PhefsTer26
NM_001258274.3:c.967_970del NP_001245203.1:p.Leu323PhefsTer26
NM_001354615.2:c.967_970del NP_001341544.1:p.Leu323PhefsTer26
NM_001354616.2:c.967_970del NP_001341545.1:p.Leu323PhefsTer26
NM_001354617.2:c.967_970del NP_001341546.1:p.Leu323PhefsTer26
NM_001354618.2:c.967_970del NP_001341547.1:p.Leu323PhefsTer26
NM_001354619.2:c.967_970del NP_001341548.1:p.Leu323PhefsTer26
NM_001354620.2:c.1396_1399del NP_001341549.1:p.Leu466PhefsTer26
NM_001354621.2:c.667_670del NP_001341550.1:p.Leu223PhefsTer26
NM_001354622.2:c.667_670del NP_001341551.1:p.Leu223PhefsTer26
NM_001354623.2:c.667_670del NP_001341552.1:p.Leu223PhefsTer26
NM_001354624.2:c.616_619del NP_001341553.1:p.Leu206PhefsTer26
NM_001354625.2:c.616_619del NP_001341554.1:p.Leu206PhefsTer26
NM_001354626.2:c.616_619del NP_001341555.1:p.Leu206PhefsTer26
NM_001354627.2:c.616_619del NP_001341556.1:p.Leu206PhefsTer26
NM_001354628.2:c.1690_1693del NP_001341557.1:p.Leu564PhefsTer26
NM_001354629.2:c.1591_1594del NP_001341558.1:p.Leu531PhefsTer26
NM_001354630.2:c.1690_1693del NP_001341559.1:p.Leu564PhefsTer17
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