Canonical Allele Identifier: CA915942403
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 635950
ClinVar RCV Id: RCV000787456

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993510_36999509del , CM000665.2:g.36993510_36999509del GRCh38
NC_000003.11:g.37035001_37041000del , CM000665.1:g.37035001_37041000del GRCh37
NC_000003.10:g.37010005_37016004del NCBI36
NG_007109.2:g.5161_11160del , LRG_216:g.5161_11160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413740.2:c.-38_208-1446del
ENST00000616768.6:c.-38_208-1446del
ENST00000673673.2:c.-38_208-1446del
ENST00000673899.1:c.-38_208-1446del
ENST00000674111.1:c.-38_208-1446del
ENST00000231790.6:c.-38_208-1446del
ENST00000536378.5:c.-670_-516-1446del
NM_000249.3:c.-38_208-1446del , LRG_216t1:c.-38_208-1446del
NM_001258271.1:c.-38_208-1446del
NM_001258273.1:c.-670_-516-1446del
XM_005265161.1:c.-38_208-1446del
XM_005265164.1:c.-756_-516-1446del
NM_001167617.2:c.-554_-82-1446del
NM_001167618.2:c.-983_-516-1446del
NM_001167619.2:c.-896_-424-1446del
NM_001258274.2:c.-1133_-516-1446del
NM_001354615.1:c.-664_-419-1446del
NM_001354616.1:c.-664_-424-1446del
NM_001354617.1:c.-756_-516-1446del
NM_001354618.1:c.-988_-516-1446del
NM_001354619.1:c.-1112_-516-1446del
NM_001354620.1:c.-322_-82-1446del
NM_001354621.1:c.-1081_-609-1446del
NM_001354622.1:c.-1194_-722-1446del
NM_001354623.1:c.-1103_-722-1446del
NM_001354624.1:c.-864_-619-1446del
NM_001354625.1:c.-762_-522-1446del
NM_001354626.1:c.-859_-619-1446del
NM_001354627.1:c.-1091_-619-1446del
NM_001354628.1:c.-38_208-1446del
NM_001354629.1:c.-38_207+2800del
NM_001354630.1:c.-38_208-1446del
XM_005265161.2:c.-38_208-1446del
XM_017006450.2:c.-849_-609-1446del