Canonical Allele Identifier: CA2499216663
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171947
ClinVar RCV Id: RCV001525438
dbSNP Id: rs2125693080

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993533_36993575del , CM000665.2:g.36993533_36993575del GRCh38
NC_000003.11:g.37035024_37035066del , CM000665.1:g.37035024_37035066del GRCh37
NC_000003.10:g.37010028_37010070del NCBI36
NG_007109.2:g.5184_5226del , LRG_216:g.5184_5226del
NG_008418.1:g.4733_4775del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-15_28del
ENST00000450420.6:c.-15_28del
ENST00000456676.7:c.-15_28del
ENST00000458009.6:c.-15_28del
ENST00000616768.6:c.-15_28del
ENST00000673673.2:c.-15_28del
ENST00000231790.8:c.-15_28del
ENST00000432299.6:c.-15_28del
ENST00000673713.1:n.17_59del
ENST00000673715.1:c.-15_28del
ENST00000673899.1:c.-15_28del
ENST00000673972.1:c.-15_28del
ENST00000674111.1:c.-15_28del
ENST00000231790.6:c.-15_28del
ENST00000432299.5:c.-15_28del
ENST00000457004.5:c.-15_28del
ENST00000536378.5:c.-647_-605del ENSP00000444286.2:n.-647_-605del
NM_000249.3:c.-15_28del , LRG_216t1:c.-15_28del
NM_001258271.1:c.-15_28del
NM_001258273.1:c.-647_-605del NP_001245202.1:n.-647_-605del
XM_005265161.1:c.-15_28del
XM_005265164.1:c.-733_-691del XP_005265221.1:n.-733_-691del
NM_001167617.2:c.-531_-489del NP_001161089.1:n.-531_-489del
NM_001167618.2:c.-960_-918del NP_001161090.1:n.-960_-918del
NM_001167619.2:c.-873_-831del NP_001161091.1:n.-873_-831del
NM_001258274.2:c.-1110_-1068del NP_001245203.1:n.-1110_-1068del
NM_001354615.1:c.-641_-599del NP_001341544.1:n.-641_-599del
NM_001354616.1:c.-641_-599del NP_001341545.1:n.-641_-599del
NM_001354617.1:c.-733_-691del NP_001341546.1:n.-733_-691del
NM_001354618.1:c.-965_-923del NP_001341547.1:n.-965_-923del
NM_001354619.1:c.-1089_-1047del NP_001341548.1:n.-1089_-1047del
NM_001354620.1:c.-299_-257del NP_001341549.1:n.-299_-257del
NM_001354621.1:c.-1058_-1016del NP_001341550.1:n.-1058_-1016del
NM_001354622.1:c.-1171_-1129del NP_001341551.1:n.-1171_-1129del
NM_001354623.1:c.-1080_-1038del NP_001341552.1:n.-1080_-1038del
NM_001354624.1:c.-841_-799del NP_001341553.1:n.-841_-799del
NM_001354625.1:c.-739_-697del NP_001341554.1:n.-739_-697del
NM_001354626.1:c.-836_-794del NP_001341555.1:n.-836_-794del
NM_001354627.1:c.-1068_-1026del NP_001341556.1:n.-1068_-1026del
NM_001354628.1:c.-15_28del
NM_001354629.1:c.-15_28del
NM_001354630.1:c.-15_28del
XM_005265161.2:c.-15_28del
XM_017006450.2:c.-826_-784del XP_016861939.1:n.-826_-784del
NM_000249.4:c.-15_28del
NM_001167617.3:c.-531_-489del NP_001161089.1:n.-531_-489del
NM_001167618.3:c.-960_-918del NP_001161090.1:n.-960_-918del
NM_001167619.3:c.-873_-831del NP_001161091.1:n.-873_-831del
NM_001258271.2:c.-15_28del
NM_001258273.2:c.-647_-605del NP_001245202.1:n.-647_-605del
NM_001258274.3:c.-1110_-1068del NP_001245203.1:n.-1110_-1068del
NM_001354615.2:c.-641_-599del NP_001341544.1:n.-641_-599del
NM_001354616.2:c.-641_-599del NP_001341545.1:n.-641_-599del
NM_001354617.2:c.-733_-691del NP_001341546.1:n.-733_-691del
NM_001354618.2:c.-965_-923del NP_001341547.1:n.-965_-923del
NM_001354619.2:c.-1089_-1047del NP_001341548.1:n.-1089_-1047del
NM_001354620.2:c.-299_-257del NP_001341549.1:n.-299_-257del
NM_001354621.2:c.-1058_-1016del NP_001341550.1:n.-1058_-1016del
NM_001354622.2:c.-1171_-1129del NP_001341551.1:n.-1171_-1129del
NM_001354623.2:c.-1080_-1038del NP_001341552.1:n.-1080_-1038del
NM_001354624.2:c.-841_-799del NP_001341553.1:n.-841_-799del
NM_001354625.2:c.-739_-697del NP_001341554.1:n.-739_-697del
NM_001354626.2:c.-836_-794del NP_001341555.1:n.-836_-794del
NM_001354627.2:c.-1068_-1026del NP_001341556.1:n.-1068_-1026del
NM_001354628.2:c.-15_28del
NM_001354629.2:c.-15_28del
NM_001354630.2:c.-15_28del