Canonical Allele Identifier: CA330714

Gene: MLH1

Linked Data

• ClinVar Variation Id: 89717
• ClinVar RCV Id: RCV000075191
• MyVariant Identifiers: chr3:g.37068654_37071808del (hg19) ; chr3:g.37027163_37030317del (hg38)
• PubMed: PMID:15942939

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37027163_37030317del , CM000665.2:g.37027163_37030317del	GRCh38
NC_000003.11:g.37068654_37071808del , CM000665.1:g.37068654_37071808del	GRCh37
NC_000003.10:g.37043658_37046812del	NCBI36
NG_007109.2:g.38814_41968del , LRG_216:g.38814_41968del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1409+1156_1558+1385del
ENST00000429117.6:c.1115+1156_1264+1385del
ENST00000450420.6:c.1409+1156_1558+1385del
ENST00000456676.7:c.1409+1156_1558+1385del
ENST00000492474.6:c.686+1156_835+1385del
ENST00000616768.6:c.1409+1156_1558+1385del
ENST00000673673.2:c.1409+1156_1558+1385del
ENST00000231790.8:c.1409+1156_1558+1385del
ENST00000413212.2:c.*327+1156_*476+1385del
ENST00000432299.6:c.*1241+1156_*1390+1385del
ENST00000441265.6:c.686+1156_835+1385del
ENST00000447829.6:c.*520+1156_*669+1385del
ENST00000539477.6:c.686+1156_835+1385del
ENST00000616768.5:c.446+1156_595+1385del
ENST00000673673.1:c.1362+1156_1511+1385del
ENST00000673715.1:c.1409+1156_1558+1385del
ENST00000673889.1:n.791+1156_940+1385del
ENST00000673897.1:c.*1201+1156_*1350+1385del
ENST00000673899.1:c.678-1621_826+1385del
ENST00000673947.1:c.*1549+1156_*1698+1385del
ENST00000673972.1:c.*1287+1156_*1436+1385del
ENST00000673990.1:n.1300+1156_1449+1385del
ENST00000674019.1:c.686+1156_835+1385del
ENST00000674107.1:n.1257+1156_2791del
ENST00000674111.1:c.1409+1156_1558+1385del
ENST00000231790.6:c.1409+1156_1558+1385del
ENST00000413212.1:c.484+1156_633+1385del
ENST00000413740.1:c.32+1156_181+1385del
ENST00000435176.5:c.1115+1156_1264+1385del
ENST00000450420.5:c.32+1156_181+1385del
ENST00000455445.6:c.686+1156_835+1385del
ENST00000456676.6:c.1384+1156_1533+1385del
ENST00000458205.6:c.686+1156_835+1385del
ENST00000536378.5:c.686+1156_835+1385del
ENST00000539477.5:c.686+1156_835+1385del
ENST00000616768.4:c.177+1156_326+1385del
NM_000249.3:c.1409+1156_1558+1385del , LRG_216t1:c.1409+1156_1558+1385del
NM_001167617.1:c.1115+1156_1264+1385del
NM_001167618.1:c.686+1156_835+1385del
NM_001167619.1:c.686+1156_835+1385del
NM_001258271.1:c.1409+1156_1558+1385del
NM_001258273.1:c.686+1156_835+1385del
NM_001258274.1:c.686+1156_835+1385del
XM_005265161.1:c.1202+1156_1351+1385del
XM_005265163.1:c.686+1156_835+1385del
XM_005265164.1:c.686+1156_835+1385del
XM_005265166.1:c.386+1156_535+1385del
XM_011533727.1:c.335+1156_484+1385del
NM_001167617.2:c.1115+1156_1264+1385del
NM_001167618.2:c.686+1156_835+1385del
NM_001167619.2:c.686+1156_835+1385del
NM_001258274.2:c.686+1156_835+1385del
NM_001354615.1:c.686+1156_835+1385del
NM_001354616.1:c.686+1156_835+1385del
NM_001354617.1:c.686+1156_835+1385del
NM_001354618.1:c.686+1156_835+1385del
NM_001354619.1:c.686+1156_835+1385del
NM_001354620.1:c.1115+1156_1264+1385del
NM_001354621.1:c.386+1156_535+1385del
NM_001354622.1:c.386+1156_535+1385del
NM_001354623.1:c.386+1156_535+1385del
NM_001354624.1:c.335+1156_484+1385del
NM_001354625.1:c.335+1156_484+1385del
NM_001354626.1:c.335+1156_484+1385del
NM_001354627.1:c.335+1156_484+1385del
NM_001354628.1:c.1409+1156_1558+1385del
NM_001354629.1:c.1310+1156_1459+1385del
NM_001354630.1:c.1409+1156_1558+1385del
XM_005265161.2:c.1202+1156_1351+1385del
XM_017006450.2:c.386+1156_535+1385del
NM_000249.4:c.1409+1156_1558+1385del
NM_001167617.3:c.1115+1156_1264+1385del
NM_001167618.3:c.686+1156_835+1385del
NM_001167619.3:c.686+1156_835+1385del
NM_001258271.2:c.1409+1156_1558+1385del
NM_001258273.2:c.686+1156_835+1385del
NM_001258274.3:c.686+1156_835+1385del
NM_001354615.2:c.686+1156_835+1385del
NM_001354616.2:c.686+1156_835+1385del
NM_001354617.2:c.686+1156_835+1385del
NM_001354618.2:c.686+1156_835+1385del
NM_001354619.2:c.686+1156_835+1385del
NM_001354620.2:c.1115+1156_1264+1385del
NM_001354621.2:c.386+1156_535+1385del
NM_001354622.2:c.386+1156_535+1385del
NM_001354623.2:c.386+1156_535+1385del
NM_001354624.2:c.335+1156_484+1385del
NM_001354625.2:c.335+1156_484+1385del
NM_001354626.2:c.335+1156_484+1385del
NM_001354627.2:c.335+1156_484+1385del
NM_001354628.2:c.1409+1156_1558+1385del
NM_001354629.2:c.1310+1156_1459+1385del
NM_001354630.2:c.1409+1156_1558+1385del