Canonical Allele Identifier: CA16042067
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371808
ClinVar RCV Id: RCV000410179
dbSNP Id: rs1057517543

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000956_37000968del , CM000665.2:g.37000956_37000968del GRCh38
NC_000003.11:g.37042447_37042459del , CM000665.1:g.37042447_37042459del GRCh37
NC_000003.10:g.37017451_37017463del NCBI36
NG_007109.2:g.12607_12619del , LRG_216:g.12607_12619del

Transcript Alleles

HGVS Amino-acid change
ENST00000231790.8:c.209_221del
ENST00000413212.2:c.-515_-503del
ENST00000432299.6:c.*289_*301del
ENST00000441265.6:c.-515_-503del
ENST00000442249.6:n.224_236del
ENST00000447829.6:c.-81_-69del
ENST00000539477.6:c.-423_-411del
ENST00000673673.1:n.162_174del
ENST00000673713.1:n.240_252del
ENST00000673715.1:c.209_221del
ENST00000673897.1:c.*1_*13del
ENST00000673899.1:c.209_221del
ENST00000673947.1:c.*349_*361del
ENST00000673972.1:c.*87_*99del
ENST00000673990.1:n.194_206del
ENST00000674019.1:c.-515_-503del
ENST00000674107.1:n.151_163del
ENST00000674111.1:c.209_221del
ENST00000231790.6:c.209_221del
ENST00000429117.5:c.-81_-69del
ENST00000432299.5:c.*289_*301del
ENST00000435176.5:c.-81_-69del
ENST00000441265.5:c.-423_-411del
ENST00000442249.5:c.*1_*13del
ENST00000454028.5:c.*87_*99del
ENST00000455445.6:c.-515_-503del
ENST00000456676.6:n.184_196del
ENST00000457004.5:c.*86-3445_*86-3433del ENSP00000407773.1:p.=
ENST00000458205.6:c.-515_-503del
ENST00000466900.5:n.136_148del
ENST00000476172.5:n.331_343del
ENST00000485889.1:n.213_225del
ENST00000492474.5:n.232_244del
ENST00000536378.5:c.-515_-503del
ENST00000539477.5:c.-423_-411del
NM_000249.3:c.209_221del , LRG_216t1:c.209_221del
NM_001167617.1:c.-81_-69del
NM_001167618.1:c.-515_-503del
NM_001167619.1:c.-423_-411del
NM_001258271.1:c.209_221del
NM_001258273.1:c.-515_-503del
NM_001258274.1:c.-515_-503del
XM_005265161.1:c.209_221del
XM_005265163.1:c.-515_-503del
XM_005265164.1:c.-515_-503del
XM_005265166.1:c.-721_-709del
XM_011533727.1:c.-618_-606del
NM_001167617.2:c.-81_-69del
NM_001167618.2:c.-515_-503del
NM_001167619.2:c.-423_-411del
NM_001258274.2:c.-515_-503del
NM_001354615.1:c.-418_-406del
NM_001354616.1:c.-423_-411del
NM_001354617.1:c.-515_-503del
NM_001354618.1:c.-515_-503del
NM_001354619.1:c.-515_-503del
NM_001354620.1:c.-81_-69del
NM_001354621.1:c.-608_-596del
NM_001354622.1:c.-721_-709del
NM_001354623.1:c.-721_-709del
NM_001354624.1:c.-618_-606del
NM_001354625.1:c.-521_-509del
NM_001354626.1:c.-618_-606del
NM_001354627.1:c.-618_-606del
NM_001354628.1:c.209_221del
NM_001354629.1:c.208-3445_208-3433del NP_001341558.1:p.=
NM_001354630.1:c.209_221del
XM_005265161.2:c.209_221del
XM_017006450.2:c.-608_-596del
NM_000249.4:c.209_221del
NM_001167617.3:c.-81_-69del
NM_001167618.3:c.-515_-503del
NM_001167619.3:c.-423_-411del
NM_001258271.2:c.209_221del
NM_001258273.2:c.-515_-503del
NM_001258274.3:c.-515_-503del
NM_001354615.2:c.-418_-406del
NM_001354616.2:c.-423_-411del
NM_001354617.2:c.-515_-503del
NM_001354618.2:c.-515_-503del
NM_001354619.2:c.-515_-503del
NM_001354620.2:c.-81_-69del
NM_001354621.2:c.-608_-596del
NM_001354622.2:c.-721_-709del
NM_001354623.2:c.-721_-709del
NM_001354624.2:c.-618_-606del
NM_001354625.2:c.-521_-509del
NM_001354626.2:c.-618_-606del
NM_001354627.2:c.-618_-606del
NM_001354628.2:c.209_221del
NM_001354629.2:c.208-3445_208-3433del NP_001341558.1:p.=
NM_001354630.2:c.209_221del