Canonical Allele Identifier: CA645372729

Gene: MLH1

Linked Data

• ClinVar Variation Id: 433874
• ClinVar RCV Id: RCV000500972
• dbSNP Id: rs1553642657
• MyVariant Identifiers: chr3:g.37050305_37050396del (hg19) ; chr3:g.37008814_37008905del (hg38)
• PubMed: PMID:14635101 ; PMID:16941473 ; PMID:18625694 ; PMID:20937110

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37008816_37008907del , CM000665.2:g.37008816_37008907del	GRCh38
NC_000003.11:g.37050307_37050398del , CM000665.1:g.37050307_37050398del	GRCh37
NC_000003.10:g.37025311_37025402del	NCBI36
NG_007109.2:g.20467_20558del , LRG_216:g.20467_20558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.456_545+2del
ENST00000429117.6:c.162_251+2del
ENST00000450420.6:c.456_545+2del
ENST00000456676.7:c.456_545+2del
ENST00000458009.6:c.456_545+2del
ENST00000492474.6:c.-268_-179+2del
ENST00000616768.6:c.456_545+2del
ENST00000673673.2:c.456_545+2del
ENST00000231790.8:c.456_545+2del
ENST00000413212.2:c.-268_-179+2del
ENST00000432299.6:c.*536_*625+2del
ENST00000441265.6:c.-268_-179+2del
ENST00000442249.6:n.471_560+2del
ENST00000447829.6:c.93_182+2del
ENST00000539477.6:c.-179+1753_-179+1844del	ENSP00000443665.1:n.-179+1753_-179+1844del
ENST00000673673.1:c.409_498+2del
ENST00000673713.1:n.487_576+2del
ENST00000673715.1:c.456_545+2del
ENST00000673897.1:c.*248_*337+2del
ENST00000673899.1:c.456_545+2del
ENST00000673947.1:c.*596_*685+2del
ENST00000673972.1:c.*334_*423+2del
ENST00000673990.1:n.441_530+2del
ENST00000674019.1:c.-268_-179+2del
ENST00000674107.1:n.398_487+2del
ENST00000674111.1:c.456_545+2del
ENST00000231790.6:c.456_545+2del
ENST00000432299.5:c.*536_*625+2del
ENST00000435176.5:c.162_251+2del
ENST00000441265.5:c.-179+1753_-179+1844del	ENSP00000398392.1:n.-179+1753_-179+1844del
ENST00000442249.5:c.*248_*337+2del
ENST00000454028.5:c.*329_*418+2del
ENST00000455445.6:c.-268_-179+2del
ENST00000456676.6:c.431_520+2del
ENST00000457004.5:c.*235_*324+2del
ENST00000458205.6:c.-268_-179+2del
ENST00000485889.1:n.460_549+2del
ENST00000492474.5:n.479_568+2del
ENST00000536378.5:c.-268_-179+2del
ENST00000539477.5:c.-179+1753_-179+1844del	ENSP00000443665.1:n.-179+1753_-179+1844del
NM_000249.3:c.456_545+2del , LRG_216t1:c.456_545+2del
NM_001167617.1:c.162_251+2del
NM_001167618.1:c.-268_-179+2del
NM_001167619.1:c.-179+1753_-179+1844del	NP_001161091.1:n.-179+1753_-179+1844del
NM_001258271.1:c.456_545+2del
NM_001258273.1:c.-268_-179+2del
NM_001258274.1:c.-268_-179+2del
XM_005265161.1:c.456_545+2del
XM_005265163.1:c.-268_-179+2del
XM_005265164.1:c.-268_-179+2del
XM_005265166.1:c.-474_-385+2del
XM_011533727.1:c.-371_-282+2del
NM_001167617.2:c.162_251+2del
NM_001167618.2:c.-268_-179+2del
NM_001167619.2:c.-179+1753_-179+1844del	NP_001161091.1:n.-179+1753_-179+1844del
NM_001258274.2:c.-268_-179+2del
NM_001354615.1:c.-179+1753_-179+1844del	NP_001341544.1:n.-179+1753_-179+1844del
NM_001354616.1:c.-179+1753_-179+1844del	NP_001341545.1:n.-179+1753_-179+1844del
NM_001354617.1:c.-268_-179+2del
NM_001354618.1:c.-268_-179+2del
NM_001354619.1:c.-268_-179+2del
NM_001354620.1:c.162_251+2del
NM_001354621.1:c.-361_-272+2del
NM_001354622.1:c.-474_-385+2del
NM_001354623.1:c.-474_-385+2del
NM_001354624.1:c.-371_-282+2del
NM_001354625.1:c.-282+1753_-282+1844del	NP_001341554.1:n.-282+1753_-282+1844del
NM_001354626.1:c.-371_-282+2del
NM_001354627.1:c.-371_-282+2del
NM_001354628.1:c.456_545+2del
NM_001354629.1:c.357_446+2del
NM_001354630.1:c.456_545+2del
XM_005265161.2:c.456_545+2del
XM_017006450.2:c.-361_-272+2del
NM_000249.4:c.456_545+2del
NM_001167617.3:c.162_251+2del
NM_001167618.3:c.-268_-179+2del
NM_001167619.3:c.-179+1753_-179+1844del	NP_001161091.1:n.-179+1753_-179+1844del
NM_001258271.2:c.456_545+2del
NM_001258273.2:c.-268_-179+2del
NM_001258274.3:c.-268_-179+2del
NM_001354615.2:c.-179+1753_-179+1844del	NP_001341544.1:n.-179+1753_-179+1844del
NM_001354616.2:c.-179+1753_-179+1844del	NP_001341545.1:n.-179+1753_-179+1844del
NM_001354617.2:c.-268_-179+2del
NM_001354618.2:c.-268_-179+2del
NM_001354619.2:c.-268_-179+2del
NM_001354620.2:c.162_251+2del
NM_001354621.2:c.-361_-272+2del
NM_001354622.2:c.-474_-385+2del
NM_001354623.2:c.-474_-385+2del
NM_001354624.2:c.-371_-282+2del
NM_001354625.2:c.-282+1753_-282+1844del	NP_001341554.1:n.-282+1753_-282+1844del
NM_001354626.2:c.-371_-282+2del
NM_001354627.2:c.-371_-282+2del
NM_001354628.2:c.456_545+2del
NM_001354629.2:c.357_446+2del
NM_001354630.2:c.456_545+2del