Canonical Allele Identifier: CA330677
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 89666
ClinVar RCV Id: RCV000075138

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36995928_37002064del , CM000665.2:g.36995928_37002064del GRCh38
NC_000003.11:g.37037419_37043555del , CM000665.1:g.37037419_37043555del GRCh37
NC_000003.10:g.37012423_37018559del NCBI36
NG_007109.2:g.7579_13715del , LRG_216:g.7579_13715del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.117-691_306+1011del
ENST00000429117.6:c.-173-691_12+1016del
ENST00000450420.6:c.117-691_306+1011del
ENST00000456676.7:c.117-691_306+1011del
ENST00000458009.6:c.117-691_306+1011del
ENST00000492474.6:c.-607-691_-418+1011del
ENST00000616768.6:c.117-691_306+1011del
ENST00000673673.2:c.117-691_306+1011del
ENST00000231790.8:c.117-691_306+1011del
ENST00000413212.2:c.-607-691_-418+1011del
ENST00000432299.6:c.*197-691_*386+1011del
ENST00000441265.6:c.-607-691_-418+1011del
ENST00000442249.6:n.132-691_321+1011del
ENST00000447829.6:c.-173-691_17+1011del
ENST00000539477.6:c.-515-691_-326+1011del
ENST00000673673.1:c.70-691_259+1011del
ENST00000673713.1:n.148-691_337+1011del
ENST00000673715.1:c.117-691_306+1011del
ENST00000673897.1:c.116+2265_*98+1011del
ENST00000673899.1:c.117-691_306+1011del
ENST00000673947.1:c.*256+283_*446+1011del
ENST00000673972.1:c.117-696_*184+1011del
ENST00000673990.1:n.107-696_291+1011del
ENST00000674019.1:c.-607-691_-418+1011del
ENST00000674107.1:n.59-691_248+1011del
ENST00000674111.1:c.117-691_306+1011del
ENST00000231790.6:c.117-691_306+1011del
ENST00000429117.5:c.-173-691_12+1016del
ENST00000432299.5:c.*197-691_*386+1011del
ENST00000435176.5:c.-173-691_12+1016del
ENST00000441265.5:c.-515-691_-326+1011del
ENST00000442249.5:c.116+2265_*98+1011del
ENST00000454028.5:c.117-696_*179+1016del
ENST00000455445.6:c.-602-696_-418+1011del
ENST00000456676.6:c.92-691_281+1011del
ENST00000457004.5:c.117-696_*86-2337del
ENST00000458205.6:c.-752-691_-418+1011del
ENST00000466900.5:n.44-691_233+1011del
ENST00000485889.1:n.121-691_310+1011del
ENST00000492474.5:n.140-691_329+1011del
ENST00000536378.5:c.-517+2265_-418+1011del
ENST00000539477.5:c.-515-691_-326+1011del
NM_000249.3:c.117-691_306+1011del , LRG_216t1:c.117-691_306+1011del
NM_001167617.1:c.-173-691_12+1016del
NM_001167618.1:c.-602-696_-418+1011del
NM_001167619.1:c.-515-691_-326+1011del
NM_001258271.1:c.117-691_306+1011del
NM_001258273.1:c.-517+2265_-418+1011del
NM_001258274.1:c.-752-691_-418+1011del
XM_005265161.1:c.117-691_306+1011del
XM_005265163.1:c.-607-691_-418+1011del
XM_005265164.1:c.-602-696_-418+1011del
XM_005265166.1:c.-813-691_-624+1011del
XM_011533727.1:c.-710-691_-521+1011del
NM_001167617.2:c.-173-691_12+1016del
NM_001167618.2:c.-602-696_-418+1011del
NM_001167619.2:c.-515-691_-326+1011del
NM_001258274.2:c.-752-691_-418+1011del
NM_001354615.1:c.-510-691_-326+1016del
NM_001354616.1:c.-510-696_-326+1011del
NM_001354617.1:c.-602-696_-418+1011del
NM_001354618.1:c.-607-691_-418+1011del
NM_001354619.1:c.-607-691_-418+1011del
NM_001354620.1:c.-168-696_12+1016del
NM_001354621.1:c.-700-691_-511+1011del
NM_001354622.1:c.-813-691_-624+1011del
NM_001354623.1:c.-723+2038_-624+1011del
NM_001354624.1:c.-710-691_-521+1011del
NM_001354625.1:c.-608-696_-429+1016del
NM_001354626.1:c.-705-696_-521+1011del
NM_001354627.1:c.-710-691_-521+1011del
NM_001354628.1:c.117-691_306+1011del
NM_001354629.1:c.117-691_208-2337del
NM_001354630.1:c.117-691_306+1011del
XM_005265161.2:c.117-691_306+1011del
XM_017006450.2:c.-695-696_-511+1011del
NM_000249.4:c.117-691_306+1011del
NM_001167617.3:c.-173-691_12+1016del
NM_001167618.3:c.-602-696_-418+1011del
NM_001167619.3:c.-515-691_-326+1011del
NM_001258271.2:c.117-691_306+1011del
NM_001258273.2:c.-517+2265_-418+1011del
NM_001258274.3:c.-752-691_-418+1011del
NM_001354615.2:c.-510-691_-326+1016del
NM_001354616.2:c.-510-696_-326+1011del
NM_001354617.2:c.-602-696_-418+1011del
NM_001354618.2:c.-607-691_-418+1011del
NM_001354619.2:c.-607-691_-418+1011del
NM_001354620.2:c.-168-696_12+1016del
NM_001354621.2:c.-700-691_-511+1011del
NM_001354622.2:c.-813-691_-624+1011del
NM_001354623.2:c.-723+2038_-624+1011del
NM_001354624.2:c.-710-691_-521+1011del
NM_001354625.2:c.-608-696_-429+1016del
NM_001354626.2:c.-705-696_-521+1011del
NM_001354627.2:c.-710-691_-521+1011del
NM_001354628.2:c.117-691_306+1011del
NM_001354629.2:c.117-691_208-2337del
NM_001354630.2:c.117-691_306+1011del