Canonical Allele Identifier: CA2665010112
Gene: MLH1 HGNC NCBI

Linked Data

gnomAD v4: 3-37050388-C-CAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37050389_37050390dup , CM000665.2:g.37050389_37050390dup GRCh38
NC_000003.11:g.37091880_37091881dup , CM000665.1:g.37091880_37091881dup GRCh37
NC_000003.10:g.37066884_37066885dup NCBI36
NG_007109.2:g.62040_62041dup , LRG_216:g.62040_62041dup

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.1668-97_1668-96dup ENSP00000416476.2:n.1668-97_1668-96dup
ENST00000429117.6:c.1810-97_1810-96dup ENSP00000407019.2:n.1810-97_1810-96dup
ENST00000450420.6:c.1559-97_1559-96dup ENSP00000393006.2:n.1559-97_1559-96dup
ENST00000456676.7:c.1897-97_1897-96dup ENSP00000416687.3:n.1897-97_1897-96dup
ENST00000492474.6:c.1381-97_1381-96dup ENSP00000518393.1:n.1381-97_1381-96dup
ENST00000616768.6:c.2011-97_2011-96dup ENSP00000480669.3:n.2011-97_2011-96dup
ENST00000673673.2:c.1939-97_1939-96dup ENSP00000500979.2:n.1939-97_1939-96dup
ENST00000231790.8:c.2104-97_2104-96dup MANE Select ENSP00000231790.3:n.2104-97_2104-96dup
ENST00000413212.2:c.*1022-97_*1022-96dup ENSP00000400844.2:n.*1022-97_*1022-96dup
ENST00000432299.6:c.*1936-97_*1936-96dup ENSP00000416783.1:n.*1936-97_*1936-96dup
ENST00000447829.6:c.*1215-97_*1215-96dup ENSP00000399329.2:n.*1215-97_*1215-96dup
ENST00000539477.6:c.1381-97_1381-96dup ENSP00000443665.1:n.1381-97_1381-96dup
ENST00000616768.5:c.1048-97_1048-96dup ENSP00000480669.2:n.1048-97_1048-96dup
ENST00000673673.1:c.1892-97_1892-96dup
ENST00000673741.1:n.1138-97_1138-96dup
ENST00000673889.1:n.1486-97_1486-96dup
ENST00000673897.1:c.*1896-97_*1896-96dup ENSP00000501109.1:n.*1896-97_*1896-96dup
ENST00000673899.1:c.1372-97_1372-96dup ENSP00000501030.1:n.1372-97_1372-96dup
ENST00000673947.1:c.*2244-97_*2244-96dup ENSP00000501304.1:n.*2244-97_*2244-96dup
ENST00000673972.1:c.*1982-97_*1982-96dup ENSP00000501281.1:n.*1982-97_*1982-96dup
ENST00000674019.1:c.1381-97_1381-96dup ENSP00000501081.1:n.1381-97_1381-96dup
ENST00000674111.1:c.*333-97_*333-96dup ENSP00000501162.1:n.*333-97_*333-96dup
ENST00000674125.1:n.815-97_815-96dup
ENST00000231790.6:c.2104-97_2104-96dup ENSP00000231790.2:n.2104-97_2104-96dup
ENST00000413740.1:c.291-97_291-96dup ENSP00000416476.1:n.291-97_291-96dup
ENST00000435176.5:c.1810-97_1810-96dup ENSP00000402564.1:n.1810-97_1810-96dup
ENST00000450420.5:c.182-97_182-96dup ENSP00000393006.1:n.182-97_182-96dup
ENST00000455445.6:c.1381-97_1381-96dup ENSP00000398272.2:n.1381-97_1381-96dup
ENST00000456676.6:c.1872-97_1872-96dup
ENST00000458205.6:c.1381-97_1381-96dup ENSP00000402667.2:n.1381-97_1381-96dup
ENST00000536378.5:c.1381-97_1381-96dup ENSP00000444286.2:n.1381-97_1381-96dup
ENST00000539477.5:c.1381-97_1381-96dup ENSP00000443665.1:n.1381-97_1381-96dup
NM_000249.3:c.2104-97_2104-96dup , LRG_216t1:c.2104-97_2104-96dup NP_000240.1:n.2104-97_2104-96dup
NM_001167617.1:c.1810-97_1810-96dup NP_001161089.1:n.1810-97_1810-96dup
NM_001167618.1:c.1381-97_1381-96dup NP_001161090.1:n.1381-97_1381-96dup
NM_001167619.1:c.1381-97_1381-96dup NP_001161091.1:n.1381-97_1381-96dup
NM_001258271.1:c.1897-97_1897-96dup NP_001245200.1:n.1897-97_1897-96dup
NM_001258273.1:c.1381-97_1381-96dup NP_001245202.1:n.1381-97_1381-96dup
NM_001258274.1:c.1381-97_1381-96dup NP_001245203.1:n.1381-97_1381-96dup
XM_005265161.1:c.1897-97_1897-96dup XP_005265218.1:n.1897-97_1897-96dup
XM_005265163.1:c.1381-97_1381-96dup XP_005265220.1:n.1381-97_1381-96dup
XM_005265164.1:c.1381-97_1381-96dup XP_005265221.1:n.1381-97_1381-96dup
XM_005265166.1:c.1081-97_1081-96dup XP_005265223.1:n.1081-97_1081-96dup
XM_011533727.1:c.1030-97_1030-96dup XP_011532029.1:n.1030-97_1030-96dup
NM_001167617.2:c.1810-97_1810-96dup NP_001161089.1:n.1810-97_1810-96dup
NM_001167618.2:c.1381-97_1381-96dup NP_001161090.1:n.1381-97_1381-96dup
NM_001167619.2:c.1381-97_1381-96dup NP_001161091.1:n.1381-97_1381-96dup
NM_001258274.2:c.1381-97_1381-96dup NP_001245203.1:n.1381-97_1381-96dup
NM_001354615.1:c.1381-97_1381-96dup NP_001341544.1:n.1381-97_1381-96dup
NM_001354616.1:c.1381-97_1381-96dup NP_001341545.1:n.1381-97_1381-96dup
NM_001354617.1:c.1381-97_1381-96dup NP_001341546.1:n.1381-97_1381-96dup
NM_001354618.1:c.1381-97_1381-96dup NP_001341547.1:n.1381-97_1381-96dup
NM_001354619.1:c.1381-97_1381-96dup NP_001341548.1:n.1381-97_1381-96dup
NM_001354620.1:c.1810-97_1810-96dup NP_001341549.1:n.1810-97_1810-96dup
NM_001354621.1:c.1081-97_1081-96dup NP_001341550.1:n.1081-97_1081-96dup
NM_001354622.1:c.1081-97_1081-96dup NP_001341551.1:n.1081-97_1081-96dup
NM_001354623.1:c.1081-97_1081-96dup NP_001341552.1:n.1081-97_1081-96dup
NM_001354624.1:c.1030-97_1030-96dup NP_001341553.1:n.1030-97_1030-96dup
NM_001354625.1:c.1030-97_1030-96dup NP_001341554.1:n.1030-97_1030-96dup
NM_001354626.1:c.1030-97_1030-96dup NP_001341555.1:n.1030-97_1030-96dup
NM_001354627.1:c.1030-97_1030-96dup NP_001341556.1:n.1030-97_1030-96dup
NM_001354628.1:c.2011-97_2011-96dup NP_001341557.1:n.2011-97_2011-96dup
NM_001354629.1:c.2005-97_2005-96dup NP_001341558.1:n.2005-97_2005-96dup
NM_001354630.1:c.1939-97_1939-96dup NP_001341559.1:n.1939-97_1939-96dup
XM_005265161.2:c.1897-97_1897-96dup XP_005265218.1:n.1897-97_1897-96dup
XM_017006450.2:c.1081-97_1081-96dup XP_016861939.1:n.1081-97_1081-96dup
NM_000249.4:c.2104-97_2104-96dup MANE Select NP_000240.1:n.2104-97_2104-96dup
NM_001167617.3:c.1810-97_1810-96dup NP_001161089.1:n.1810-97_1810-96dup
NM_001167618.3:c.1381-97_1381-96dup NP_001161090.1:n.1381-97_1381-96dup
NM_001167619.3:c.1381-97_1381-96dup NP_001161091.1:n.1381-97_1381-96dup
NM_001258271.2:c.1897-97_1897-96dup NP_001245200.1:n.1897-97_1897-96dup
NM_001258273.2:c.1381-97_1381-96dup NP_001245202.1:n.1381-97_1381-96dup
NM_001258274.3:c.1381-97_1381-96dup NP_001245203.1:n.1381-97_1381-96dup
NM_001354615.2:c.1381-97_1381-96dup NP_001341544.1:n.1381-97_1381-96dup
NM_001354616.2:c.1381-97_1381-96dup NP_001341545.1:n.1381-97_1381-96dup
NM_001354617.2:c.1381-97_1381-96dup NP_001341546.1:n.1381-97_1381-96dup
NM_001354618.2:c.1381-97_1381-96dup NP_001341547.1:n.1381-97_1381-96dup
NM_001354619.2:c.1381-97_1381-96dup NP_001341548.1:n.1381-97_1381-96dup
NM_001354620.2:c.1810-97_1810-96dup NP_001341549.1:n.1810-97_1810-96dup
NM_001354621.2:c.1081-97_1081-96dup NP_001341550.1:n.1081-97_1081-96dup
NM_001354622.2:c.1081-97_1081-96dup NP_001341551.1:n.1081-97_1081-96dup
NM_001354623.2:c.1081-97_1081-96dup NP_001341552.1:n.1081-97_1081-96dup
NM_001354624.2:c.1030-97_1030-96dup NP_001341553.1:n.1030-97_1030-96dup
NM_001354625.2:c.1030-97_1030-96dup NP_001341554.1:n.1030-97_1030-96dup
NM_001354626.2:c.1030-97_1030-96dup NP_001341555.1:n.1030-97_1030-96dup
NM_001354627.2:c.1030-97_1030-96dup NP_001341556.1:n.1030-97_1030-96dup
NM_001354628.2:c.2011-97_2011-96dup NP_001341557.1:n.2011-97_2011-96dup
NM_001354629.2:c.2005-97_2005-96dup NP_001341558.1:n.2005-97_2005-96dup
NM_001354630.2:c.1939-97_1939-96dup NP_001341559.1:n.1939-97_1939-96dup
Search 100 bp 5'
Search 100 bp 3'