Canonical Allele Identifier: CA008613
Gene: MLH1 HGNC NCBI

Linked Data

dbSNP Id: rs267607723

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37000957_37000960del , CM000665.2:g.37000957_37000960del GRCh38
NC_000003.11:g.37042448_37042451del , CM000665.1:g.37042448_37042451del GRCh37
NC_000003.10:g.37017452_37017455del NCBI36
NG_007109.2:g.12608_12611del , LRG_216:g.12608_12611del

Transcript Alleles

HGVS Amino-acid change
ENST00000413740.2:c.210_213del
ENST00000429117.6:c.-80_-77del
ENST00000450420.6:c.210_213del
ENST00000456676.7:c.210_213del
ENST00000458009.6:c.210_213del
ENST00000492474.6:c.-514_-511del
ENST00000616768.6:c.210_213del
ENST00000673673.2:c.210_213del
ENST00000231790.8:c.210_213del
ENST00000413212.2:c.-514_-511del
ENST00000432299.6:c.*290_*293del
ENST00000441265.6:c.-514_-511del
ENST00000442249.6:n.225_228del
ENST00000447829.6:c.-80_-77del
ENST00000539477.6:c.-422_-419del
ENST00000673673.1:c.163_166del
ENST00000673713.1:n.241_244del
ENST00000673715.1:c.210_213del
ENST00000673897.1:c.*2_*5del
ENST00000673899.1:c.210_213del
ENST00000673947.1:c.*350_*353del
ENST00000673972.1:c.*88_*91del
ENST00000673990.1:n.195_198del
ENST00000674019.1:c.-514_-511del
ENST00000674107.1:n.152_155del
ENST00000674111.1:c.210_213del
ENST00000231790.6:c.210_213del
ENST00000429117.5:c.-80_-77del
ENST00000432299.5:c.*290_*293del
ENST00000435176.5:c.-80_-77del
ENST00000441265.5:c.-422_-419del
ENST00000442249.5:c.*2_*5del
ENST00000454028.5:c.*88_*91del
ENST00000455445.6:c.-514_-511del
ENST00000456676.6:c.185_188del
ENST00000457004.5:c.*86-3444_*86-3441del ENSP00000407773.1:n.*86-3444_*86-3441del
ENST00000458205.6:c.-514_-511del
ENST00000466900.5:n.137_140del
ENST00000476172.5:n.332_335del
ENST00000485889.1:n.214_217del
ENST00000492474.5:n.233_236del
ENST00000536378.5:c.-514_-511del
ENST00000539477.5:c.-422_-419del
NM_000249.3:c.210_213del , LRG_216t1:c.210_213del
NM_001167617.1:c.-80_-77del
NM_001167618.1:c.-514_-511del
NM_001167619.1:c.-422_-419del
NM_001258271.1:c.210_213del
NM_001258273.1:c.-514_-511del
NM_001258274.1:c.-514_-511del
XM_005265161.1:c.210_213del
XM_005265163.1:c.-514_-511del
XM_005265164.1:c.-514_-511del
XM_005265166.1:c.-720_-717del
XM_011533727.1:c.-617_-614del
NM_001167617.2:c.-80_-77del
NM_001167618.2:c.-514_-511del
NM_001167619.2:c.-422_-419del
NM_001258274.2:c.-514_-511del
NM_001354615.1:c.-417_-414del
NM_001354616.1:c.-422_-419del
NM_001354617.1:c.-514_-511del
NM_001354618.1:c.-514_-511del
NM_001354619.1:c.-514_-511del
NM_001354620.1:c.-80_-77del
NM_001354621.1:c.-607_-604del
NM_001354622.1:c.-720_-717del
NM_001354623.1:c.-720_-717del
NM_001354624.1:c.-617_-614del
NM_001354625.1:c.-520_-517del
NM_001354626.1:c.-617_-614del
NM_001354627.1:c.-617_-614del
NM_001354628.1:c.210_213del
NM_001354629.1:c.208-3444_208-3441del NP_001341558.1:n.208-3444_208-3441del
NM_001354630.1:c.210_213del
XM_005265161.2:c.210_213del
XM_017006450.2:c.-607_-604del
NM_000249.4:c.210_213del
NM_001167617.3:c.-80_-77del
NM_001167618.3:c.-514_-511del
NM_001167619.3:c.-422_-419del
NM_001258271.2:c.210_213del
NM_001258273.2:c.-514_-511del
NM_001258274.3:c.-514_-511del
NM_001354615.2:c.-417_-414del
NM_001354616.2:c.-422_-419del
NM_001354617.2:c.-514_-511del
NM_001354618.2:c.-514_-511del
NM_001354619.2:c.-514_-511del
NM_001354620.2:c.-80_-77del
NM_001354621.2:c.-607_-604del
NM_001354622.2:c.-720_-717del
NM_001354623.2:c.-720_-717del
NM_001354624.2:c.-617_-614del
NM_001354625.2:c.-520_-517del
NM_001354626.2:c.-617_-614del
NM_001354627.2:c.-617_-614del
NM_001354628.2:c.210_213del
NM_001354629.2:c.208-3444_208-3441del NP_001341558.1:n.208-3444_208-3441del
NM_001354630.2:c.210_213del