Canonical Allele Identifier: CA008814
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs63751642

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000960_37000962del , CM000665.2:g.37000960_37000962del GRCh38
NC_000003.11:g.37042451_37042453del , CM000665.1:g.37042451_37042453del GRCh37
NC_000003.10:g.37017455_37017457del NCBI36
NG_007109.2:g.12611_12613del , LRG_216:g.12611_12613del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.213_215del ENSP00000416476.2:p.Glu71del
ENST00000429117.6:c.-77_-75del ENSP00000407019.2:n.-77_-75del
ENST00000450420.6:c.213_215del ENSP00000393006.2:p.Glu71del
ENST00000456676.7:c.213_215del ENSP00000416687.3:p.Glu71del
ENST00000458009.6:c.213_215del ENSP00000411066.2:p.Glu71del
ENST00000492474.6:c.-511_-509del ENSP00000518393.1:n.-511_-509del
ENST00000616768.6:c.213_215del ENSP00000480669.3:p.Glu71del
ENST00000673673.2:c.213_215del ENSP00000500979.2:p.Glu71del
ENST00000231790.8:c.213_215del MANE Select ENSP00000231790.3:p.Glu71del
ENST00000413212.2:c.-511_-509del ENSP00000400844.2:n.-511_-509del
ENST00000432299.6:c.*293_*295del ENSP00000416783.1:n.*293_*295del
ENST00000441265.6:c.-511_-509del ENSP00000398392.2:n.-511_-509del
ENST00000442249.6:n.228_230del
ENST00000447829.6:c.-77_-75del ENSP00000399329.2:n.-77_-75del
ENST00000539477.6:c.-419_-417del ENSP00000443665.1:n.-419_-417del
ENST00000673673.1:c.166_168del
ENST00000673713.1:n.244_246del
ENST00000673715.1:c.213_215del ENSP00000501301.1:p.Glu71del
ENST00000673897.1:c.*5_*7del ENSP00000501109.1:n.*5_*7del
ENST00000673899.1:c.213_215del ENSP00000501030.1:p.Glu71del
ENST00000673947.1:c.*353_*355del ENSP00000501304.1:n.*353_*355del
ENST00000673972.1:c.*91_*93del ENSP00000501281.1:n.*91_*93del
ENST00000673990.1:n.198_200del
ENST00000674019.1:c.-511_-509del ENSP00000501081.1:n.-511_-509del
ENST00000674107.1:n.155_157del
ENST00000674111.1:c.213_215del ENSP00000501162.1:p.Glu71del
ENST00000231790.6:c.213_215del ENSP00000231790.2:p.Glu71del
ENST00000429117.5:c.-77_-75del ENSP00000407019.1:n.-77_-75del
ENST00000432299.5:c.*293_*295del ENSP00000416783.1:n.*293_*295del
ENST00000435176.5:c.-77_-75del ENSP00000402564.1:n.-77_-75del
ENST00000441265.5:c.-419_-417del ENSP00000398392.1:n.-419_-417del
ENST00000442249.5:c.*5_*7del ENSP00000387511.1:n.*5_*7del
ENST00000454028.5:c.*91_*93del ENSP00000392649.1:n.*91_*93del
ENST00000455445.6:c.-511_-509del ENSP00000398272.2:n.-511_-509del
ENST00000456676.6:c.188_190del
ENST00000457004.5:c.*86-3441_*86-3439del ENSP00000407773.1:n.*86-3441_*86-3439del
ENST00000458205.6:c.-511_-509del ENSP00000402667.2:n.-511_-509del
ENST00000466900.5:n.140_142del
ENST00000476172.5:n.335_337del
ENST00000485889.1:n.217_219del
ENST00000492474.5:n.236_238del
ENST00000536378.5:c.-511_-509del ENSP00000444286.2:n.-511_-509del
ENST00000539477.5:c.-419_-417del ENSP00000443665.1:n.-419_-417del
NM_000249.3:c.213_215del , LRG_216t1:c.213_215del NP_000240.1:p.Glu71del
NM_001167617.1:c.-77_-75del NP_001161089.1:n.-77_-75del
NM_001167618.1:c.-511_-509del NP_001161090.1:n.-511_-509del
NM_001167619.1:c.-419_-417del NP_001161091.1:n.-419_-417del
NM_001258271.1:c.213_215del NP_001245200.1:p.Glu71del
NM_001258273.1:c.-511_-509del NP_001245202.1:n.-511_-509del
NM_001258274.1:c.-511_-509del NP_001245203.1:n.-511_-509del
XM_005265161.1:c.213_215del XP_005265218.1:p.Glu71del
XM_005265163.1:c.-511_-509del XP_005265220.1:n.-511_-509del
XM_005265164.1:c.-511_-509del XP_005265221.1:n.-511_-509del
XM_005265166.1:c.-717_-715del XP_005265223.1:n.-717_-715del
XM_011533727.1:c.-614_-612del XP_011532029.1:n.-614_-612del
NM_001167617.2:c.-77_-75del NP_001161089.1:n.-77_-75del
NM_001167618.2:c.-511_-509del NP_001161090.1:n.-511_-509del
NM_001167619.2:c.-419_-417del NP_001161091.1:n.-419_-417del
NM_001258274.2:c.-511_-509del NP_001245203.1:n.-511_-509del
NM_001354615.1:c.-414_-412del NP_001341544.1:n.-414_-412del
NM_001354616.1:c.-419_-417del NP_001341545.1:n.-419_-417del
NM_001354617.1:c.-511_-509del NP_001341546.1:n.-511_-509del
NM_001354618.1:c.-511_-509del NP_001341547.1:n.-511_-509del
NM_001354619.1:c.-511_-509del NP_001341548.1:n.-511_-509del
NM_001354620.1:c.-77_-75del NP_001341549.1:n.-77_-75del
NM_001354621.1:c.-604_-602del NP_001341550.1:n.-604_-602del
NM_001354622.1:c.-717_-715del NP_001341551.1:n.-717_-715del
NM_001354623.1:c.-717_-715del NP_001341552.1:n.-717_-715del
NM_001354624.1:c.-614_-612del NP_001341553.1:n.-614_-612del
NM_001354625.1:c.-517_-515del NP_001341554.1:n.-517_-515del
NM_001354626.1:c.-614_-612del NP_001341555.1:n.-614_-612del
NM_001354627.1:c.-614_-612del NP_001341556.1:n.-614_-612del
NM_001354628.1:c.213_215del NP_001341557.1:p.Glu71del
NM_001354629.1:c.208-3441_208-3439del NP_001341558.1:n.208-3441_208-3439del
NM_001354630.1:c.213_215del NP_001341559.1:p.Glu71del
XM_005265161.2:c.213_215del XP_005265218.1:p.Glu71del
XM_017006450.2:c.-604_-602del XP_016861939.1:n.-604_-602del
NM_000249.4:c.213_215del MANE Select NP_000240.1:p.Glu71del
NM_001167617.3:c.-77_-75del NP_001161089.1:n.-77_-75del
NM_001167618.3:c.-511_-509del NP_001161090.1:n.-511_-509del
NM_001167619.3:c.-419_-417del NP_001161091.1:n.-419_-417del
NM_001258271.2:c.213_215del NP_001245200.1:p.Glu71del
NM_001258273.2:c.-511_-509del NP_001245202.1:n.-511_-509del
NM_001258274.3:c.-511_-509del NP_001245203.1:n.-511_-509del
NM_001354615.2:c.-414_-412del NP_001341544.1:n.-414_-412del
NM_001354616.2:c.-419_-417del NP_001341545.1:n.-419_-417del
NM_001354617.2:c.-511_-509del NP_001341546.1:n.-511_-509del
NM_001354618.2:c.-511_-509del NP_001341547.1:n.-511_-509del
NM_001354619.2:c.-511_-509del NP_001341548.1:n.-511_-509del
NM_001354620.2:c.-77_-75del NP_001341549.1:n.-77_-75del
NM_001354621.2:c.-604_-602del NP_001341550.1:n.-604_-602del
NM_001354622.2:c.-717_-715del NP_001341551.1:n.-717_-715del
NM_001354623.2:c.-717_-715del NP_001341552.1:n.-717_-715del
NM_001354624.2:c.-614_-612del NP_001341553.1:n.-614_-612del
NM_001354625.2:c.-517_-515del NP_001341554.1:n.-517_-515del
NM_001354626.2:c.-614_-612del NP_001341555.1:n.-614_-612del
NM_001354627.2:c.-614_-612del NP_001341556.1:n.-614_-612del
NM_001354628.2:c.213_215del NP_001341557.1:p.Glu71del
NM_001354629.2:c.208-3441_208-3439del NP_001341558.1:n.208-3441_208-3439del
NM_001354630.2:c.213_215del NP_001341559.1:p.Glu71del