Canonical Allele Identifier: CA331077

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90276
• ClinVar RCV Id: RCV000075765 ; RCV003455999
• dbSNP Id: rs587779023
• MyVariant Identifiers: chr3:g.37053339_37053355del (hg19) ; chr3:g.37011848_37011864del (hg38)
• PubMed: PMID:16142001

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37011848_37011864del , CM000665.2:g.37011848_37011864del	GRCh38
NC_000003.11:g.37053339_37053355del , CM000665.1:g.37053339_37053355del	GRCh37
NC_000003.10:g.37028343_37028359del	NCBI36
NG_007109.2:g.23499_23515del , LRG_216:g.23499_23515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.574_588+2del
ENST00000429117.6:c.280_294+2del
ENST00000450420.6:c.574_588+2del
ENST00000456676.7:c.574_588+2del
ENST00000458009.6:c.574_588+2del
ENST00000492474.6:c.-150_-136+2del
ENST00000616768.6:c.574_588+2del
ENST00000673673.2:c.574_588+2del
ENST00000231790.8:c.574_588+2del
ENST00000413212.2:c.-150_-136+2del
ENST00000432299.6:c.*654_*668+2del
ENST00000441265.6:c.-150_-136+2del
ENST00000442249.6:n.589_603+2del
ENST00000447829.6:c.211_225+2del
ENST00000539477.6:c.-150_-136+2del
ENST00000673673.1:c.527_541+2del
ENST00000673713.1:n.605_619+2del
ENST00000673715.1:c.574_588+2del
ENST00000673897.1:c.*366_*380+2del
ENST00000673899.1:c.574_588+2del
ENST00000673947.1:c.*714_*728+2del
ENST00000673972.1:c.*452_*466+2del
ENST00000673990.1:n.559_573+2del
ENST00000674019.1:c.-150_-136+2del
ENST00000674107.1:n.516_530+2del
ENST00000674111.1:c.574_588+2del
ENST00000231790.6:c.574_588+2del
ENST00000432299.5:c.*654_*668+2del
ENST00000435176.5:c.280_294+2del
ENST00000441265.5:c.-150_-136+2del
ENST00000442249.5:c.*366_*380+2del
ENST00000455445.6:c.-150_-136+2del
ENST00000456676.6:c.549_563+2del
ENST00000457004.5:c.*353_*367+2del
ENST00000458205.6:c.-150_-136+2del
ENST00000536378.5:c.-150_-136+2del
ENST00000539477.5:c.-150_-136+2del
NM_000249.3:c.574_588+2del , LRG_216t1:c.574_588+2del
NM_001167617.1:c.280_294+2del
NM_001167618.1:c.-150_-136+2del
NM_001167619.1:c.-150_-136+2del
NM_001258271.1:c.574_588+2del
NM_001258273.1:c.-150_-136+2del
NM_001258274.1:c.-150_-136+2del
XM_005265161.1:c.574_588+2del
XM_005265163.1:c.-150_-136+2del
XM_005265164.1:c.-150_-136+2del
XM_005265166.1:c.-356_-342+2del
XM_011533727.1:c.-253_-239+2del
NM_001167617.2:c.280_294+2del
NM_001167618.2:c.-150_-136+2del
NM_001167619.2:c.-150_-136+2del
NM_001258274.2:c.-150_-136+2del
NM_001354615.1:c.-150_-136+2del
NM_001354616.1:c.-150_-136+2del
NM_001354617.1:c.-150_-136+2del
NM_001354618.1:c.-150_-136+2del
NM_001354619.1:c.-150_-136+2del
NM_001354620.1:c.280_294+2del
NM_001354621.1:c.-243_-229+2del
NM_001354622.1:c.-356_-342+2del
NM_001354623.1:c.-356_-342+2del
NM_001354624.1:c.-253_-239+2del
NM_001354625.1:c.-253_-239+2del
NM_001354626.1:c.-253_-239+2del
NM_001354627.1:c.-253_-239+2del
NM_001354628.1:c.574_588+2del
NM_001354629.1:c.475_489+2del
NM_001354630.1:c.574_588+2del
XM_005265161.2:c.574_588+2del
XM_017006450.2:c.-243_-229+2del
NM_000249.4:c.574_588+2del
NM_001167617.3:c.280_294+2del
NM_001167618.3:c.-150_-136+2del
NM_001167619.3:c.-150_-136+2del
NM_001258271.2:c.574_588+2del
NM_001258273.2:c.-150_-136+2del
NM_001258274.3:c.-150_-136+2del
NM_001354615.2:c.-150_-136+2del
NM_001354616.2:c.-150_-136+2del
NM_001354617.2:c.-150_-136+2del
NM_001354618.2:c.-150_-136+2del
NM_001354619.2:c.-150_-136+2del
NM_001354620.2:c.280_294+2del
NM_001354621.2:c.-243_-229+2del
NM_001354622.2:c.-356_-342+2del
NM_001354623.2:c.-356_-342+2del
NM_001354624.2:c.-253_-239+2del
NM_001354625.2:c.-253_-239+2del
NM_001354626.2:c.-253_-239+2del
NM_001354627.2:c.-253_-239+2del
NM_001354628.2:c.574_588+2del
NM_001354629.2:c.475_489+2del
NM_001354630.2:c.574_588+2del