Canonical Allele Identifier: CA1357880367
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37025807_37025809delinsCCT , CM000665.2:g.37025807_37025809delinsCCT GRCh38
NC_000003.11:g.37067298_37067300delinsCCT , CM000665.1:g.37067298_37067300delinsCCT GRCh37
NC_000003.10:g.37042302_37042304delinsCCT NCBI36
NG_007109.2:g.37458_37460delinsCCT , LRG_216:g.37458_37460delinsCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.1209_1211delinsCCT ENSP00000416476.2:p.Pro403=
ENST00000429117.6:c.915_917delinsCCT ENSP00000407019.2:p.Pro305=
ENST00000450420.6:c.1209_1211delinsCCT ENSP00000393006.2:p.Pro403=
ENST00000456676.7:c.1209_1211delinsCCT ENSP00000416687.3:p.Pro403=
ENST00000458009.6:c.*110_*112delinsCCT ENSP00000411066.2:n.*110_*112delinsCCT
ENST00000492474.6:c.486_488delinsCCT ENSP00000518393.1:p.Pro162=
ENST00000616768.6:c.1209_1211delinsCCT ENSP00000480669.3:p.Pro403=
ENST00000673673.2:c.1209_1211delinsCCT ENSP00000500979.2:p.Pro403=
ENST00000231790.8:c.1209_1211delinsCCT MANE Select ENSP00000231790.3:p.Pro403=
ENST00000413212.2:c.*127_*129delinsCCT ENSP00000400844.2:n.*127_*129delinsCCT
ENST00000432299.6:c.*1041_*1043delinsCCT ENSP00000416783.1:n.*1041_*1043delinsCCT
ENST00000441265.6:c.486_488delinsCCT ENSP00000398392.2:p.Pro162=
ENST00000442249.6:n.1017_1019delinsCCT
ENST00000447829.6:c.*320_*322delinsCCT ENSP00000399329.2:n.*320_*322delinsCCT
ENST00000539477.6:c.486_488delinsCCT ENSP00000443665.1:p.Pro162=
ENST00000616768.5:c.246_248delinsCCT ENSP00000480669.2:p.Pro82=
ENST00000673673.1:c.1162_1164delinsCCT
ENST00000673713.1:n.1333_1335delinsCCT
ENST00000673715.1:c.1209_1211delinsCCT ENSP00000501301.1:p.Pro403=
ENST00000673889.1:n.591_593delinsCCT
ENST00000673897.1:c.*1001_*1003delinsCCT ENSP00000501109.1:n.*1001_*1003delinsCCT
ENST00000673899.1:c.678-2977_678-2975delinsCCT ENSP00000501030.1:n.678-2977_678-2975delinsCCT
ENST00000673947.1:c.*1349_*1351delinsCCT ENSP00000501304.1:n.*1349_*1351delinsCCT
ENST00000673972.1:c.*1087_*1089delinsCCT ENSP00000501281.1:n.*1087_*1089delinsCCT
ENST00000673990.1:n.1100_1102delinsCCT
ENST00000674019.1:c.486_488delinsCCT ENSP00000501081.1:p.Pro162=
ENST00000674107.1:n.1057_1059delinsCCT
ENST00000674111.1:c.1209_1211delinsCCT ENSP00000501162.1:p.Pro403=
ENST00000231790.6:c.1209_1211delinsCCT ENSP00000231790.2:p.Pro403=
ENST00000413212.1:c.284_286delinsCCT
ENST00000435176.5:c.915_917delinsCCT ENSP00000402564.1:p.Pro305=
ENST00000447829.5:c.496_498delinsCCT
ENST00000455445.6:c.486_488delinsCCT ENSP00000398272.2:p.Pro162=
ENST00000456676.6:c.1184_1186delinsCCT
ENST00000458009.5:c.396_398delinsCCT
ENST00000458205.6:c.486_488delinsCCT ENSP00000402667.2:p.Pro162=
ENST00000536378.5:c.486_488delinsCCT ENSP00000444286.2:p.Pro162=
ENST00000539477.5:c.486_488delinsCCT ENSP00000443665.1:p.Pro162=
NM_000249.3:c.1209_1211delinsCCT , LRG_216t1:c.1209_1211delinsCCT NP_000240.1:p.Pro403=
NM_001167617.1:c.915_917delinsCCT NP_001161089.1:p.Pro305=
NM_001167618.1:c.486_488delinsCCT NP_001161090.1:p.Pro162=
NM_001167619.1:c.486_488delinsCCT NP_001161091.1:p.Pro162=
NM_001258271.1:c.1209_1211delinsCCT NP_001245200.1:p.Pro403=
NM_001258273.1:c.486_488delinsCCT NP_001245202.1:p.Pro162=
NM_001258274.1:c.486_488delinsCCT NP_001245203.1:p.Pro162=
XM_005265161.1:c.1002_1004delinsCCT XP_005265218.1:p.Pro334=
XM_005265163.1:c.486_488delinsCCT XP_005265220.1:p.Pro162=
XM_005265164.1:c.486_488delinsCCT XP_005265221.1:p.Pro162=
XM_005265166.1:c.186_188delinsCCT XP_005265223.1:p.Pro62=
XM_011533727.1:c.135_137delinsCCT XP_011532029.1:p.Pro45=
NM_001167617.2:c.915_917delinsCCT NP_001161089.1:p.Pro305=
NM_001167618.2:c.486_488delinsCCT NP_001161090.1:p.Pro162=
NM_001167619.2:c.486_488delinsCCT NP_001161091.1:p.Pro162=
NM_001258274.2:c.486_488delinsCCT NP_001245203.1:p.Pro162=
NM_001354615.1:c.486_488delinsCCT NP_001341544.1:p.Pro162=
NM_001354616.1:c.486_488delinsCCT NP_001341545.1:p.Pro162=
NM_001354617.1:c.486_488delinsCCT NP_001341546.1:p.Pro162=
NM_001354618.1:c.486_488delinsCCT NP_001341547.1:p.Pro162=
NM_001354619.1:c.486_488delinsCCT NP_001341548.1:p.Pro162=
NM_001354620.1:c.915_917delinsCCT NP_001341549.1:p.Pro305=
NM_001354621.1:c.186_188delinsCCT NP_001341550.1:p.Pro62=
NM_001354622.1:c.186_188delinsCCT NP_001341551.1:p.Pro62=
NM_001354623.1:c.186_188delinsCCT NP_001341552.1:p.Pro62=
NM_001354624.1:c.135_137delinsCCT NP_001341553.1:p.Pro45=
NM_001354625.1:c.135_137delinsCCT NP_001341554.1:p.Pro45=
NM_001354626.1:c.135_137delinsCCT NP_001341555.1:p.Pro45=
NM_001354627.1:c.135_137delinsCCT NP_001341556.1:p.Pro45=
NM_001354628.1:c.1209_1211delinsCCT NP_001341557.1:p.Pro403=
NM_001354629.1:c.1110_1112delinsCCT NP_001341558.1:p.Pro370=
NM_001354630.1:c.1209_1211delinsCCT NP_001341559.1:p.Pro403=
XM_005265161.2:c.1002_1004delinsCCT XP_005265218.1:p.Pro334=
XM_017006450.2:c.186_188delinsCCT XP_016861939.1:p.Pro62=
NM_000249.4:c.1209_1211delinsCCT MANE Select NP_000240.1:p.Pro403=
NM_001167617.3:c.915_917delinsCCT NP_001161089.1:p.Pro305=
NM_001167618.3:c.486_488delinsCCT NP_001161090.1:p.Pro162=
NM_001167619.3:c.486_488delinsCCT NP_001161091.1:p.Pro162=
NM_001258271.2:c.1209_1211delinsCCT NP_001245200.1:p.Pro403=
NM_001258273.2:c.486_488delinsCCT NP_001245202.1:p.Pro162=
NM_001258274.3:c.486_488delinsCCT NP_001245203.1:p.Pro162=
NM_001354615.2:c.486_488delinsCCT NP_001341544.1:p.Pro162=
NM_001354616.2:c.486_488delinsCCT NP_001341545.1:p.Pro162=
NM_001354617.2:c.486_488delinsCCT NP_001341546.1:p.Pro162=
NM_001354618.2:c.486_488delinsCCT NP_001341547.1:p.Pro162=
NM_001354619.2:c.486_488delinsCCT NP_001341548.1:p.Pro162=
NM_001354620.2:c.915_917delinsCCT NP_001341549.1:p.Pro305=
NM_001354621.2:c.186_188delinsCCT NP_001341550.1:p.Pro62=
NM_001354622.2:c.186_188delinsCCT NP_001341551.1:p.Pro62=
NM_001354623.2:c.186_188delinsCCT NP_001341552.1:p.Pro62=
NM_001354624.2:c.135_137delinsCCT NP_001341553.1:p.Pro45=
NM_001354625.2:c.135_137delinsCCT NP_001341554.1:p.Pro45=
NM_001354626.2:c.135_137delinsCCT NP_001341555.1:p.Pro45=
NM_001354627.2:c.135_137delinsCCT NP_001341556.1:p.Pro45=
NM_001354628.2:c.1209_1211delinsCCT NP_001341557.1:p.Pro403=
NM_001354629.2:c.1110_1112delinsCCT NP_001341558.1:p.Pro370=
NM_001354630.2:c.1209_1211delinsCCT NP_001341559.1:p.Pro403=