Canonical Allele Identifier: CA2742038355
Gene: MLH1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.[37040296_37040298del;37040301C>T;37040302A>T] , CM000665.2:g.[37040296_37040298del;37040301C>T;37040302A>T] GRCh38
NC_000003.11:g.[37081787_37081789del;37081792C>T;37081793A>T] , CM000665.1:g.[37081787_37081789del;37081792C>T;37081793A>T] GRCh37
NC_000003.10:g.[37056791_37056793del;37056796C>T;37056797A>T] NCBI36
NG_007109.2:g.[51947_51949del;51952C>T;51953A>T] , LRG_216:g.[51947_51949del;51952C>T;51953A>T]

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000416476.2:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000429117.6:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] ENSP00000407019.2:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
ENST00000450420.6:c.[1559-10190_1559-10188del;1559-10185C>T;1559-10184A>T] ENSP00000393006.2:n.[1559-10190_1559-10188del;1559-10185C>T;1...
ENST00000456676.7:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000416687.3:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000492474.6:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000518393.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000616768.6:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000480669.3:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000673673.2:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000500979.2:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000231790.8:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] MANE Select ENSP00000231790.3:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000413212.2:c.[*585+2_*585+4del;*585+7C>T;*585+8A>T] ENSP00000400844.2:n.[*585+2_*585+4del;*585+7C>T;*585+8A>T]
ENST00000432299.6:c.[*1499+2_*1499+4del;*1499+7C>T;*1499+8A>T] ENSP00000416783.1:n.[*1499+2_*1499+4del;*1499+7C>T;*1499+8A>T...
ENST00000441265.6:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000398392.2:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000447829.6:c.[*778+2_*778+4del;*778+7C>T;*778+8A>T] ENSP00000399329.2:n.[*778+2_*778+4del;*778+7C>T;*778+8A>T]
ENST00000539477.6:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000443665.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000616768.5:c.[704+2_704+4del;704+7C>T;704+8A>T] ENSP00000480669.2:n.[704+2_704+4del;704+7C>T;704+8A>T]
ENST00000673673.1:c.[1620+2_1620+4del;1620+7C>T;1620+8A>T]
ENST00000673715.1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000501301.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000673889.1:n.[1049+2_1049+4del;1049+7C>T;1049+8A>T]
ENST00000673897.1:c.[*1459+2_*1459+4del;*1459+7C>T;*1459+8A>T] ENSP00000501109.1:n.[*1459+2_*1459+4del;*1459+7C>T;*1459+8A>T...
ENST00000673899.1:c.[935+2_935+4del;935+7C>T;935+8A>T] ENSP00000501030.1:n.[935+2_935+4del;935+7C>T;935+8A>T]
ENST00000673947.1:c.[*1807+2_*1807+4del;*1807+7C>T;*1807+8A>T] ENSP00000501304.1:n.[*1807+2_*1807+4del;*1807+7C>T;*1807+8A>T...
ENST00000673972.1:c.[*1545+2_*1545+4del;*1545+7C>T;*1545+8A>T] ENSP00000501281.1:n.[*1545+2_*1545+4del;*1545+7C>T;*1545+8A>T...
ENST00000673990.1:n.[1558+2_1558+4del;1558+7C>T;1558+8A>T]
ENST00000674019.1:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000501081.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000674111.1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000501162.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000674125.1:n.[378+2_378+4del;378+7C>T;378+8A>T]
ENST00000231790.6:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] ENSP00000231790.2:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
ENST00000413740.1:c.[290+2_290+4del;290+7C>T;290+8A>T] ENSP00000416476.1:n.[290+2_290+4del;290+7C>T;290+8A>T]
ENST00000435176.5:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] ENSP00000402564.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
ENST00000450420.5:c.[182-10190_182-10188del;182-10185C>T;182-10184A>T] ENSP00000393006.1:n.[182-10190_182-10188del;182-10185C>T;182-...
ENST00000455445.6:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000398272.2:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000456676.6:c.[1642+2_1642+4del;1642+7C>T;1642+8A>T]
ENST00000458205.6:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000402667.2:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000536378.5:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000444286.2:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000539477.5:c.[944+2_944+4del;944+7C>T;944+8A>T] ENSP00000443665.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
ENST00000616768.4:c.[435+2_435+4del;435+7C>T;435+8A>T]
NM_000249.3:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] , LRG_216t1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_000240.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001167617.1:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] NP_001161089.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
NM_001167618.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161090.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001167619.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161091.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001258271.1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001245200.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001258273.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001245202.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001258274.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001245203.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
XM_005265161.1:c.[1460+2_1460+4del;1460+7C>T;1460+8A>T] XP_005265218.1:n.[1460+2_1460+4del;1460+7C>T;1460+8A>T]
XM_005265163.1:c.[944+2_944+4del;944+7C>T;944+8A>T] XP_005265220.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
XM_005265164.1:c.[944+2_944+4del;944+7C>T;944+8A>T] XP_005265221.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
XM_005265166.1:c.[644+2_644+4del;644+7C>T;644+8A>T] XP_005265223.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
XM_011533727.1:c.[593+2_593+4del;593+7C>T;593+8A>T] XP_011532029.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001167617.2:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] NP_001161089.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
NM_001167618.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161090.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001167619.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161091.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001258274.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001245203.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354615.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341544.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354616.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341545.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354617.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341546.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354618.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341547.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354619.1:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341548.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354620.1:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] NP_001341549.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
NM_001354621.1:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341550.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354622.1:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341551.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354623.1:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341552.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354624.1:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341553.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354625.1:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341554.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354626.1:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341555.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354627.1:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341556.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354628.1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001341557.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001354629.1:c.[1568+2_1568+4del;1568+7C>T;1568+8A>T] NP_001341558.1:n.[1568+2_1568+4del;1568+7C>T;1568+8A>T]
NM_001354630.1:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001341559.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
XM_005265161.2:c.[1460+2_1460+4del;1460+7C>T;1460+8A>T] XP_005265218.1:n.[1460+2_1460+4del;1460+7C>T;1460+8A>T]
XM_017006450.2:c.[644+2_644+4del;644+7C>T;644+8A>T] XP_016861939.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_000249.4:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] MANE Select NP_000240.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001167617.3:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] NP_001161089.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
NM_001167618.3:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161090.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001167619.3:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001161091.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001258271.2:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001245200.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001258273.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001245202.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001258274.3:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001245203.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354615.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341544.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354616.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341545.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354617.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341546.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354618.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341547.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354619.2:c.[944+2_944+4del;944+7C>T;944+8A>T] NP_001341548.1:n.[944+2_944+4del;944+7C>T;944+8A>T]
NM_001354620.2:c.[1373+2_1373+4del;1373+7C>T;1373+8A>T] NP_001341549.1:n.[1373+2_1373+4del;1373+7C>T;1373+8A>T]
NM_001354621.2:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341550.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354622.2:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341551.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354623.2:c.[644+2_644+4del;644+7C>T;644+8A>T] NP_001341552.1:n.[644+2_644+4del;644+7C>T;644+8A>T]
NM_001354624.2:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341553.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354625.2:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341554.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354626.2:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341555.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354627.2:c.[593+2_593+4del;593+7C>T;593+8A>T] NP_001341556.1:n.[593+2_593+4del;593+7C>T;593+8A>T]
NM_001354628.2:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001341557.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
NM_001354629.2:c.[1568+2_1568+4del;1568+7C>T;1568+8A>T] NP_001341558.1:n.[1568+2_1568+4del;1568+7C>T;1568+8A>T]
NM_001354630.2:c.[1667+2_1667+4del;1667+7C>T;1667+8A>T] NP_001341559.1:n.[1667+2_1667+4del;1667+7C>T;1667+8A>T]
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