Canonical Allele Identifier: CA330745

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89778
• ClinVar RCV Id: RCV000075252
• MyVariant Identifiers: chr3:g.37080355_37083368del (hg19) ; chr3:g.37038864_37041877del (hg38)
• PubMed: PMID:10495924 ; PMID:17312306 ; PMID:18330910

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37038864_37041877del , CM000665.2:g.37038864_37041877del	GRCh38
NC_000003.11:g.37080355_37083368del , CM000665.1:g.37080355_37083368del	GRCh37
NC_000003.10:g.37055359_37058372del	NCBI36
NG_007109.2:g.50515_53528del , LRG_216:g.50515_53528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.1559-1322_1667+1583del
ENST00000429117.6:c.1265-1322_1374-391del
ENST00000450420.6:c.1558+9932_1559-8609del	ENSP00000393006.2:n.1558+9932_1559-8609del
ENST00000456676.7:c.1559-1322_1668-391del
ENST00000492474.6:c.836-1322_945-391del
ENST00000616768.6:c.1559-1322_1668-391del
ENST00000673673.2:c.1559-1322_1668-391del
ENST00000231790.8:c.1559-1322_1668-391del
ENST00000413212.2:c.*477-1322_*586-391del
ENST00000432299.6:c.*1391-1322_*1500-391del
ENST00000441265.6:c.836-1322_944+1583del
ENST00000447829.6:c.*670-1322_*779-391del
ENST00000539477.6:c.836-1322_945-391del
ENST00000616768.5:c.596-1322_705-391del
ENST00000673673.1:c.1512-1322_1621-391del
ENST00000673715.1:c.1559-1322_1668-391del
ENST00000673889.1:n.941-1322_1050-391del
ENST00000673897.1:c.*1351-1322_*1460-391del
ENST00000673899.1:c.827-1322_936-391del
ENST00000673947.1:c.*1699-1322_*1808-391del
ENST00000673972.1:c.*1437-1322_*1546-391del
ENST00000673990.1:n.1450-1322_1559-391del
ENST00000674019.1:c.836-1322_945-391del
ENST00000674111.1:c.1559-1322_1667+1583del
ENST00000674125.1:n.270-1322_379-391del
ENST00000231790.6:c.1559-1322_1668-391del
ENST00000413740.1:c.182-1322_290+1583del
ENST00000435176.5:c.1265-1322_1374-391del
ENST00000450420.5:c.181+9932_182-8609del	ENSP00000393006.1:n.181+9932_182-8609del
ENST00000455445.6:c.836-1322_945-391del
ENST00000456676.6:c.1534-1322_1643-391del
ENST00000458205.6:c.836-1322_945-391del
ENST00000536378.5:c.836-1322_945-391del
ENST00000539477.5:c.836-1322_945-391del
ENST00000616768.4:c.327-1322_436-391del
NM_000249.3:c.1559-1322_1668-391del , LRG_216t1:c.1559-1322_1668-391del
NM_001167617.1:c.1265-1322_1374-391del
NM_001167618.1:c.836-1322_945-391del
NM_001167619.1:c.836-1322_945-391del
NM_001258271.1:c.1559-1322_1668-391del
NM_001258273.1:c.836-1322_945-391del
NM_001258274.1:c.836-1322_945-391del
XM_005265161.1:c.1352-1322_1461-391del
XM_005265163.1:c.836-1322_945-391del
XM_005265164.1:c.836-1322_945-391del
XM_005265166.1:c.536-1322_645-391del
XM_011533727.1:c.485-1322_594-391del
NM_001167617.2:c.1265-1322_1374-391del
NM_001167618.2:c.836-1322_945-391del
NM_001167619.2:c.836-1322_945-391del
NM_001258274.2:c.836-1322_945-391del
NM_001354615.1:c.836-1322_945-391del
NM_001354616.1:c.836-1322_945-391del
NM_001354617.1:c.836-1322_945-391del
NM_001354618.1:c.836-1322_945-391del
NM_001354619.1:c.836-1322_945-391del
NM_001354620.1:c.1265-1322_1374-391del
NM_001354621.1:c.536-1322_645-391del
NM_001354622.1:c.536-1322_645-391del
NM_001354623.1:c.536-1322_645-391del
NM_001354624.1:c.485-1322_594-391del
NM_001354625.1:c.485-1322_594-391del
NM_001354626.1:c.485-1322_594-391del
NM_001354627.1:c.485-1322_594-391del
NM_001354628.1:c.1559-1322_1668-391del
NM_001354629.1:c.1460-1322_1569-391del
NM_001354630.1:c.1559-1322_1668-391del
XM_005265161.2:c.1352-1322_1461-391del
XM_017006450.2:c.536-1322_645-391del
NM_000249.4:c.1559-1322_1668-391del
NM_001167617.3:c.1265-1322_1374-391del
NM_001167618.3:c.836-1322_945-391del
NM_001167619.3:c.836-1322_945-391del
NM_001258271.2:c.1559-1322_1668-391del
NM_001258273.2:c.836-1322_945-391del
NM_001258274.3:c.836-1322_945-391del
NM_001354615.2:c.836-1322_945-391del
NM_001354616.2:c.836-1322_945-391del
NM_001354617.2:c.836-1322_945-391del
NM_001354618.2:c.836-1322_945-391del
NM_001354619.2:c.836-1322_945-391del
NM_001354620.2:c.1265-1322_1374-391del
NM_001354621.2:c.536-1322_645-391del
NM_001354622.2:c.536-1322_645-391del
NM_001354623.2:c.536-1322_645-391del
NM_001354624.2:c.485-1322_594-391del
NM_001354625.2:c.485-1322_594-391del
NM_001354626.2:c.485-1322_594-391del
NM_001354627.2:c.485-1322_594-391del
NM_001354628.2:c.1559-1322_1668-391del
NM_001354629.2:c.1460-1322_1569-391del
NM_001354630.2:c.1559-1322_1668-391del