Canonical Allele Identifier: CA330647

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89620
• ClinVar RCV Id: RCV000075089 ; RCV001804810 ; RCV002468564
• MyVariant Identifiers: chr3:g.37064799_37068325del (hg19) ; chr3:g.37023308_37026834del (hg38)
• PubMed: PMID:10190329 ; PMID:15324316 ; PMID:16528605 ; PMID:16541406 ; PMID:19459153

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37023308_37026834del , CM000665.2:g.37023308_37026834del	GRCh38
NC_000003.11:g.37064799_37068325del , CM000665.1:g.37064799_37068325del	GRCh37
NC_000003.10:g.37039803_37043329del	NCBI36
NG_007109.2:g.34959_38485del , LRG_216:g.34959_38485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1039-2329_1409+827del
ENST00000429117.6:c.745-2329_1115+827del
ENST00000450420.6:c.1039-2329_1409+827del
ENST00000456676.7:c.1039-2329_1409+827del
ENST00000458009.6:c.885-2329_*310+827del
ENST00000492474.6:c.316-2329_686+827del
ENST00000616768.6:c.1039-2329_1409+827del
ENST00000673673.2:c.1039-2329_1409+827del
ENST00000231790.8:c.1039-2329_1409+827del
ENST00000413212.2:c.68-2329_*327+827del
ENST00000432299.6:c.*871-2329_*1241+827del
ENST00000441265.6:c.316-2329_686+827del
ENST00000447829.6:c.*150-2329_*520+827del
ENST00000539477.6:c.316-2329_686+827del
ENST00000616768.5:c.76-2329_446+827del
ENST00000673673.1:c.992-2329_1362+827del
ENST00000673715.1:c.1039-2329_1409+827del
ENST00000673889.1:n.421-2329_791+827del
ENST00000673897.1:c.*831-2329_*1201+827del
ENST00000673899.1:c.678-5476_678-1950del	ENSP00000501030.1:n.678-5476_678-1950del
ENST00000673947.1:c.*1179-2329_*1549+827del
ENST00000673972.1:c.*917-2329_*1287+827del
ENST00000673990.1:n.930-2329_1300+827del
ENST00000674019.1:c.316-2329_686+827del
ENST00000674107.1:n.887-2329_1257+827del
ENST00000674111.1:c.1039-2329_1409+827del
ENST00000231790.6:c.1039-2329_1409+827del
ENST00000413212.1:c.114-2329_484+827del
ENST00000435176.5:c.745-2329_1115+827del
ENST00000455445.6:c.316-2329_686+827del
ENST00000456676.6:c.1014-2329_1384+827del
ENST00000458009.5:c.226-2329_596+827del
ENST00000458205.6:c.316-2329_686+827del
ENST00000536378.5:c.316-2329_686+827del
ENST00000539477.5:c.316-2329_686+827del
NM_000249.3:c.1039-2329_1409+827del , LRG_216t1:c.1039-2329_1409+827del
NM_001167617.1:c.745-2329_1115+827del
NM_001167618.1:c.316-2329_686+827del
NM_001167619.1:c.316-2329_686+827del
NM_001258271.1:c.1039-2329_1409+827del
NM_001258273.1:c.316-2329_686+827del
NM_001258274.1:c.316-2329_686+827del
XM_005265161.1:c.832-2329_1202+827del
XM_005265163.1:c.316-2329_686+827del
XM_005265164.1:c.316-2329_686+827del
XM_005265166.1:c.16-2329_386+827del
XM_011533727.1:c.-36-2329_335+827del
NM_001167617.2:c.745-2329_1115+827del
NM_001167618.2:c.316-2329_686+827del
NM_001167619.2:c.316-2329_686+827del
NM_001258274.2:c.316-2329_686+827del
NM_001354615.1:c.316-2329_686+827del
NM_001354616.1:c.316-2329_686+827del
NM_001354617.1:c.316-2329_686+827del
NM_001354618.1:c.316-2329_686+827del
NM_001354619.1:c.316-2329_686+827del
NM_001354620.1:c.745-2329_1115+827del
NM_001354621.1:c.16-2329_386+827del
NM_001354622.1:c.16-2329_386+827del
NM_001354623.1:c.16-2329_386+827del
NM_001354624.1:c.-36-2329_335+827del
NM_001354625.1:c.-36-2329_335+827del
NM_001354626.1:c.-36-2329_335+827del
NM_001354627.1:c.-36-2329_335+827del
NM_001354628.1:c.1039-2329_1409+827del
NM_001354629.1:c.940-2329_1310+827del
NM_001354630.1:c.1039-2329_1409+827del
XM_005265161.2:c.832-2329_1202+827del
XM_017006450.2:c.16-2329_386+827del
NM_000249.4:c.1039-2329_1409+827del
NM_001167617.3:c.745-2329_1115+827del
NM_001167618.3:c.316-2329_686+827del
NM_001167619.3:c.316-2329_686+827del
NM_001258271.2:c.1039-2329_1409+827del
NM_001258273.2:c.316-2329_686+827del
NM_001258274.3:c.316-2329_686+827del
NM_001354615.2:c.316-2329_686+827del
NM_001354616.2:c.316-2329_686+827del
NM_001354617.2:c.316-2329_686+827del
NM_001354618.2:c.316-2329_686+827del
NM_001354619.2:c.316-2329_686+827del
NM_001354620.2:c.745-2329_1115+827del
NM_001354621.2:c.16-2329_386+827del
NM_001354622.2:c.16-2329_386+827del
NM_001354623.2:c.16-2329_386+827del
NM_001354624.2:c.-36-2329_335+827del
NM_001354625.2:c.-36-2329_335+827del
NM_001354626.2:c.-36-2329_335+827del
NM_001354627.2:c.-36-2329_335+827del
NM_001354628.2:c.1039-2329_1409+827del
NM_001354629.2:c.940-2329_1310+827del
NM_001354630.2:c.1039-2329_1409+827del