Canonical Allele Identifier: CA1357864846
Gene: MLH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993604_36993624delinsCGCGGCGGGGGAAGTTATCCA , CM000665.2:g.36993604_36993624delinsCGCGGCGGGGGAAGTTATCCA GRCh38
NC_000003.11:g.37035095_37035115delinsCGCGGCGGGGGAAGTTATCCA , CM000665.1:g.37035095_37035115delinsCGCGGCGGGGGAAGTTATCCA GRCh37
NC_000003.10:g.37010099_37010119delinsCGCGGCGGGGGAAGTTATCCA NCBI36
NG_007109.2:g.5255_5275delinsCGCGGCGGGGGAAGTTATCCA , LRG_216:g.5255_5275delinsCGCGGCGGGGGAAGTTATCCA
NG_008418.1:g.4681_4701delinsTGGATAACTTCCCCCGCCGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000416476.2:p.Ile19=
ENST00000450420.6:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000393006.2:p.Ile19=
ENST00000456676.7:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000416687.3:p.Ile19=
ENST00000458009.6:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000411066.2:p.Ile19=
ENST00000616768.6:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000480669.3:p.Ile19=
ENST00000673673.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000500979.2:p.Ile19=
ENST00000231790.8:c.57_77delinsCGCGGCGGGGGAAGTTATCCA MANE Select ENSP00000231790.3:p.Ile19=
ENST00000432299.6:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000416783.1:p.Ile19=
ENST00000442249.6:n.72_92delinsCGCGGCGGGGGAAGTTATCCA
ENST00000673673.1:c.10_30delinsCGCGGCGGGGGAAGTTATCCA
ENST00000673713.1:n.88_108delinsCGCGGCGGGGGAAGTTATCCA
ENST00000673715.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501301.1:p.Ile19=
ENST00000673897.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501109.1:p.Ile19=
ENST00000673899.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501030.1:p.Ile19=
ENST00000673947.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501304.1:p.Ile19=
ENST00000673972.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501281.1:p.Ile19=
ENST00000674111.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000501162.1:p.Ile19=
ENST00000231790.6:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000231790.2:p.Ile19=
ENST00000432299.5:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000416783.1:p.Ile19=
ENST00000442249.5:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000387511.1:p.Ile19=
ENST00000454028.5:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000392649.1:p.Ile19=
ENST00000456676.6:c.32_52delinsCGCGGCGGGGGAAGTTATCCA
ENST00000457004.5:c.57_77delinsCGCGGCGGGGGAAGTTATCCA ENSP00000407773.1:p.Ile19=
ENST00000536378.5:c.-576_-556delinsCGCGGCGGGGGAAGTTATCCA ENSP00000444286.2:n.-576_-556delinsCGCGGCGGGGGAAGTTATCCA
NM_000249.3:c.57_77delinsCGCGGCGGGGGAAGTTATCCA , LRG_216t1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_000240.1:p.Ile19=
NM_001258271.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001245200.1:p.Ile19=
NM_001258273.1:c.-576_-556delinsCGCGGCGGGGGAAGTTATCCA NP_001245202.1:n.-576_-556delinsCGCGGCGGGGGAAGTTATCCA
XM_005265161.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA XP_005265218.1:p.Ile19=
XM_005265164.1:c.-662_-642delinsCGCGGCGGGGGAAGTTATCCA XP_005265221.1:n.-662_-642delinsCGCGGCGGGGGAAGTTATCCA
NM_001167617.2:c.-460_-440delinsCGCGGCGGGGGAAGTTATCCA NP_001161089.1:n.-460_-440delinsCGCGGCGGGGGAAGTTATCCA
NM_001167618.2:c.-889_-869delinsCGCGGCGGGGGAAGTTATCCA NP_001161090.1:n.-889_-869delinsCGCGGCGGGGGAAGTTATCCA
NM_001167619.2:c.-802_-782delinsCGCGGCGGGGGAAGTTATCCA NP_001161091.1:n.-802_-782delinsCGCGGCGGGGGAAGTTATCCA
NM_001258274.2:c.-1039_-1019delinsCGCGGCGGGGGAAGTTATCCA NP_001245203.1:n.-1039_-1019delinsCGCGGCGGGGGAAGTTATCCA
NM_001354615.1:c.-570_-550delinsCGCGGCGGGGGAAGTTATCCA NP_001341544.1:n.-570_-550delinsCGCGGCGGGGGAAGTTATCCA
NM_001354616.1:c.-570_-550delinsCGCGGCGGGGGAAGTTATCCA NP_001341545.1:n.-570_-550delinsCGCGGCGGGGGAAGTTATCCA
NM_001354617.1:c.-662_-642delinsCGCGGCGGGGGAAGTTATCCA NP_001341546.1:n.-662_-642delinsCGCGGCGGGGGAAGTTATCCA
NM_001354618.1:c.-894_-874delinsCGCGGCGGGGGAAGTTATCCA NP_001341547.1:n.-894_-874delinsCGCGGCGGGGGAAGTTATCCA
NM_001354619.1:c.-1018_-998delinsCGCGGCGGGGGAAGTTATCCA NP_001341548.1:n.-1018_-998delinsCGCGGCGGGGGAAGTTATCCA
NM_001354620.1:c.-228_-208delinsCGCGGCGGGGGAAGTTATCCA NP_001341549.1:n.-228_-208delinsCGCGGCGGGGGAAGTTATCCA
NM_001354621.1:c.-987_-967delinsCGCGGCGGGGGAAGTTATCCA NP_001341550.1:n.-987_-967delinsCGCGGCGGGGGAAGTTATCCA
NM_001354622.1:c.-1100_-1080delinsCGCGGCGGGGGAAGTTATCCA NP_001341551.1:n.-1100_-1080delinsCGCGGCGGGGGAAGTTATCCA
NM_001354623.1:c.-1009_-989delinsCGCGGCGGGGGAAGTTATCCA NP_001341552.1:n.-1009_-989delinsCGCGGCGGGGGAAGTTATCCA
NM_001354624.1:c.-770_-750delinsCGCGGCGGGGGAAGTTATCCA NP_001341553.1:n.-770_-750delinsCGCGGCGGGGGAAGTTATCCA
NM_001354625.1:c.-668_-648delinsCGCGGCGGGGGAAGTTATCCA NP_001341554.1:n.-668_-648delinsCGCGGCGGGGGAAGTTATCCA
NM_001354626.1:c.-765_-745delinsCGCGGCGGGGGAAGTTATCCA NP_001341555.1:n.-765_-745delinsCGCGGCGGGGGAAGTTATCCA
NM_001354627.1:c.-997_-977delinsCGCGGCGGGGGAAGTTATCCA NP_001341556.1:n.-997_-977delinsCGCGGCGGGGGAAGTTATCCA
NM_001354628.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341557.1:p.Ile19=
NM_001354629.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341558.1:p.Ile19=
NM_001354630.1:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341559.1:p.Ile19=
XM_005265161.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA XP_005265218.1:p.Ile19=
XM_017006450.2:c.-755_-735delinsCGCGGCGGGGGAAGTTATCCA XP_016861939.1:n.-755_-735delinsCGCGGCGGGGGAAGTTATCCA
NM_000249.4:c.57_77delinsCGCGGCGGGGGAAGTTATCCA MANE Select NP_000240.1:p.Ile19=
NM_001167617.3:c.-460_-440delinsCGCGGCGGGGGAAGTTATCCA NP_001161089.1:n.-460_-440delinsCGCGGCGGGGGAAGTTATCCA
NM_001167618.3:c.-889_-869delinsCGCGGCGGGGGAAGTTATCCA NP_001161090.1:n.-889_-869delinsCGCGGCGGGGGAAGTTATCCA
NM_001167619.3:c.-802_-782delinsCGCGGCGGGGGAAGTTATCCA NP_001161091.1:n.-802_-782delinsCGCGGCGGGGGAAGTTATCCA
NM_001258271.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001245200.1:p.Ile19=
NM_001258273.2:c.-576_-556delinsCGCGGCGGGGGAAGTTATCCA NP_001245202.1:n.-576_-556delinsCGCGGCGGGGGAAGTTATCCA
NM_001258274.3:c.-1039_-1019delinsCGCGGCGGGGGAAGTTATCCA NP_001245203.1:n.-1039_-1019delinsCGCGGCGGGGGAAGTTATCCA
NM_001354615.2:c.-570_-550delinsCGCGGCGGGGGAAGTTATCCA NP_001341544.1:n.-570_-550delinsCGCGGCGGGGGAAGTTATCCA
NM_001354616.2:c.-570_-550delinsCGCGGCGGGGGAAGTTATCCA NP_001341545.1:n.-570_-550delinsCGCGGCGGGGGAAGTTATCCA
NM_001354617.2:c.-662_-642delinsCGCGGCGGGGGAAGTTATCCA NP_001341546.1:n.-662_-642delinsCGCGGCGGGGGAAGTTATCCA
NM_001354618.2:c.-894_-874delinsCGCGGCGGGGGAAGTTATCCA NP_001341547.1:n.-894_-874delinsCGCGGCGGGGGAAGTTATCCA
NM_001354619.2:c.-1018_-998delinsCGCGGCGGGGGAAGTTATCCA NP_001341548.1:n.-1018_-998delinsCGCGGCGGGGGAAGTTATCCA
NM_001354620.2:c.-228_-208delinsCGCGGCGGGGGAAGTTATCCA NP_001341549.1:n.-228_-208delinsCGCGGCGGGGGAAGTTATCCA
NM_001354621.2:c.-987_-967delinsCGCGGCGGGGGAAGTTATCCA NP_001341550.1:n.-987_-967delinsCGCGGCGGGGGAAGTTATCCA
NM_001354622.2:c.-1100_-1080delinsCGCGGCGGGGGAAGTTATCCA NP_001341551.1:n.-1100_-1080delinsCGCGGCGGGGGAAGTTATCCA
NM_001354623.2:c.-1009_-989delinsCGCGGCGGGGGAAGTTATCCA NP_001341552.1:n.-1009_-989delinsCGCGGCGGGGGAAGTTATCCA
NM_001354624.2:c.-770_-750delinsCGCGGCGGGGGAAGTTATCCA NP_001341553.1:n.-770_-750delinsCGCGGCGGGGGAAGTTATCCA
NM_001354625.2:c.-668_-648delinsCGCGGCGGGGGAAGTTATCCA NP_001341554.1:n.-668_-648delinsCGCGGCGGGGGAAGTTATCCA
NM_001354626.2:c.-765_-745delinsCGCGGCGGGGGAAGTTATCCA NP_001341555.1:n.-765_-745delinsCGCGGCGGGGGAAGTTATCCA
NM_001354627.2:c.-997_-977delinsCGCGGCGGGGGAAGTTATCCA NP_001341556.1:n.-997_-977delinsCGCGGCGGGGGAAGTTATCCA
NM_001354628.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341557.1:p.Ile19=
NM_001354629.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341558.1:p.Ile19=
NM_001354630.2:c.57_77delinsCGCGGCGGGGGAAGTTATCCA NP_001341559.1:p.Ile19=