Canonical Allele Identifier: CA008757
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90062
ClinVar RCV Id: RCV000075547
dbSNP Id: rs587778980
MyVariant Identifiers: chr3:g.37091984_37091990del (hg19) chr3:g.37050493_37050499del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050493_37050499del , CM000665.2:g.37050493_37050499del GRCh38
NC_000003.11:g.37091984_37091990del , CM000665.1:g.37091984_37091990del GRCh37
NC_000003.10:g.37066988_37066994del NCBI36
NG_007109.2:g.62144_62150del , LRG_216:g.62144_62150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1675_1681del ENSP00000416476.2:p.Cys559LeufsTer16
ENST00000429117.6:c.1817_1823del ENSP00000407019.2:p.Val606AlafsTer?
ENST00000450420.6:c.*3_*9del ENSP00000393006.2:n.*3_*9del
ENST00000456676.7:c.1904_1910del ENSP00000416687.3:p.Val635AlafsTer?
ENST00000492474.6:c.1388_1394del ENSP00000518393.1:p.Val463AlafsTer?
ENST00000616768.6:c.2018_2024del ENSP00000480669.3:p.Val673AlafsTer?
ENST00000673673.2:c.1946_1952del ENSP00000500979.2:p.Val649AlafsTer?
ENST00000231790.8:c.2111_2117del MANE Select ENSP00000231790.3:p.Val704AlafsTer?
ENST00000413212.2:c.*1029_*1035del ENSP00000400844.2:n.*1029_*1035del
ENST00000432299.6:c.*1943_*1949del ENSP00000416783.1:n.*1943_*1949del
ENST00000447829.6:c.*1222_*1228del ENSP00000399329.2:n.*1222_*1228del
ENST00000539477.6:c.1388_1394del ENSP00000443665.1:p.Val463AlafsTer?
ENST00000616768.5:c.1055_1061del ENSP00000480669.2:p.Val352AlafsTer?
ENST00000673673.1:c.1899_1905del
ENST00000673741.1:n.1145_1151del
ENST00000673889.1:n.1493_1499del
ENST00000673897.1:c.*1903_*1909del ENSP00000501109.1:n.*1903_*1909del
ENST00000673899.1:c.1379_1385del ENSP00000501030.1:p.Val460AlafsTer?
ENST00000673947.1:c.*2251_*2257del ENSP00000501304.1:n.*2251_*2257del
ENST00000673972.1:c.*1989_*1995del ENSP00000501281.1:n.*1989_*1995del
ENST00000674019.1:c.1388_1394del ENSP00000501081.1:p.Val463AlafsTer?
ENST00000674111.1:c.*340_*346del ENSP00000501162.1:n.*340_*346del
ENST00000674125.1:n.822_828del
ENST00000231790.6:c.2111_2117del ENSP00000231790.2:p.Val704AlafsTer?
ENST00000413740.1:c.298_304del ENSP00000416476.1:p.Cys100LeufsTer?
ENST00000435176.5:c.1817_1823del ENSP00000402564.1:p.Val606AlafsTer?
ENST00000450420.5:c.189_195del ENSP00000393006.1:n.189_195del
ENST00000455445.6:c.1388_1394del ENSP00000398272.2:p.Val463AlafsTer?
ENST00000456676.6:c.1879_1885del
ENST00000458205.6:c.1388_1394del ENSP00000402667.2:p.Val463AlafsTer?
ENST00000536378.5:c.1388_1394del ENSP00000444286.2:p.Val463AlafsTer?
ENST00000539477.5:c.1388_1394del ENSP00000443665.1:p.Val463AlafsTer?
NM_000249.3:c.2111_2117del , LRG_216t1:c.2111_2117del NP_000240.1:p.Val704AlafsTer?
NM_001167617.1:c.1817_1823del NP_001161089.1:p.Val606AlafsTer?
NM_001167618.1:c.1388_1394del NP_001161090.1:p.Val463AlafsTer?
NM_001167619.1:c.1388_1394del NP_001161091.1:p.Val463AlafsTer?
NM_001258271.1:c.1904_1910del NP_001245200.1:p.Val635AlafsTer?
NM_001258273.1:c.1388_1394del NP_001245202.1:p.Val463AlafsTer?
NM_001258274.1:c.1388_1394del NP_001245203.1:p.Val463AlafsTer?
XM_005265161.1:c.1904_1910del XP_005265218.1:p.Val635AlafsTer?
XM_005265163.1:c.1388_1394del XP_005265220.1:p.Val463AlafsTer?
XM_005265164.1:c.1388_1394del XP_005265221.1:p.Val463AlafsTer?
XM_005265166.1:c.1088_1094del XP_005265223.1:p.Val363AlafsTer?
XM_011533727.1:c.1037_1043del XP_011532029.1:p.Val346AlafsTer?
NM_001167617.2:c.1817_1823del NP_001161089.1:p.Val606AlafsTer?
NM_001167618.2:c.1388_1394del NP_001161090.1:p.Val463AlafsTer?
NM_001167619.2:c.1388_1394del NP_001161091.1:p.Val463AlafsTer?
NM_001258274.2:c.1388_1394del NP_001245203.1:p.Val463AlafsTer?
NM_001354615.1:c.1388_1394del NP_001341544.1:p.Val463AlafsTer?
NM_001354616.1:c.1388_1394del NP_001341545.1:p.Val463AlafsTer?
NM_001354617.1:c.1388_1394del NP_001341546.1:p.Val463AlafsTer?
NM_001354618.1:c.1388_1394del NP_001341547.1:p.Val463AlafsTer?
NM_001354619.1:c.1388_1394del NP_001341548.1:p.Val463AlafsTer?
NM_001354620.1:c.1817_1823del NP_001341549.1:p.Val606AlafsTer?
NM_001354621.1:c.1088_1094del NP_001341550.1:p.Val363AlafsTer?
NM_001354622.1:c.1088_1094del NP_001341551.1:p.Val363AlafsTer?
NM_001354623.1:c.1088_1094del NP_001341552.1:p.Val363AlafsTer?
NM_001354624.1:c.1037_1043del NP_001341553.1:p.Val346AlafsTer?
NM_001354625.1:c.1037_1043del NP_001341554.1:p.Val346AlafsTer?
NM_001354626.1:c.1037_1043del NP_001341555.1:p.Val346AlafsTer?
NM_001354627.1:c.1037_1043del NP_001341556.1:p.Val346AlafsTer?
NM_001354628.1:c.2018_2024del NP_001341557.1:p.Val673AlafsTer?
NM_001354629.1:c.2012_2018del NP_001341558.1:p.Val671AlafsTer?
NM_001354630.1:c.1946_1952del NP_001341559.1:p.Val649AlafsTer?
XM_005265161.2:c.1904_1910del XP_005265218.1:p.Val635AlafsTer?
XM_017006450.2:c.1088_1094del XP_016861939.1:p.Val363AlafsTer?
NM_000249.4:c.2111_2117del MANE Select NP_000240.1:p.Val704AlafsTer?
NM_001167617.3:c.1817_1823del NP_001161089.1:p.Val606AlafsTer?
NM_001167618.3:c.1388_1394del NP_001161090.1:p.Val463AlafsTer?
NM_001167619.3:c.1388_1394del NP_001161091.1:p.Val463AlafsTer?
NM_001258271.2:c.1904_1910del NP_001245200.1:p.Val635AlafsTer?
NM_001258273.2:c.1388_1394del NP_001245202.1:p.Val463AlafsTer?
NM_001258274.3:c.1388_1394del NP_001245203.1:p.Val463AlafsTer?
NM_001354615.2:c.1388_1394del NP_001341544.1:p.Val463AlafsTer?
NM_001354616.2:c.1388_1394del NP_001341545.1:p.Val463AlafsTer?
NM_001354617.2:c.1388_1394del NP_001341546.1:p.Val463AlafsTer?
NM_001354618.2:c.1388_1394del NP_001341547.1:p.Val463AlafsTer?
NM_001354619.2:c.1388_1394del NP_001341548.1:p.Val463AlafsTer?
NM_001354620.2:c.1817_1823del NP_001341549.1:p.Val606AlafsTer?
NM_001354621.2:c.1088_1094del NP_001341550.1:p.Val363AlafsTer?
NM_001354622.2:c.1088_1094del NP_001341551.1:p.Val363AlafsTer?
NM_001354623.2:c.1088_1094del NP_001341552.1:p.Val363AlafsTer?
NM_001354624.2:c.1037_1043del NP_001341553.1:p.Val346AlafsTer?
NM_001354625.2:c.1037_1043del NP_001341554.1:p.Val346AlafsTer?
NM_001354626.2:c.1037_1043del NP_001341555.1:p.Val346AlafsTer?
NM_001354627.2:c.1037_1043del NP_001341556.1:p.Val346AlafsTer?
NM_001354628.2:c.2018_2024del NP_001341557.1:p.Val673AlafsTer?
NM_001354629.2:c.2012_2018del NP_001341558.1:p.Val671AlafsTer?
NM_001354630.2:c.1946_1952del NP_001341559.1:p.Val649AlafsTer?
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