Canonical Allele Identifier: CA331055

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90233
• ClinVar RCV Id: RCV000075722
• MyVariant Identifiers: chr3:g.37049873_37052281del (hg19) ; chr3:g.37008382_37010790del (hg38)
• PubMed: PMID:12402334 ; PMID:14970868 ; PMID:16941473 ; PMID:18792805

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37008382_37010790del , CM000665.2:g.37008382_37010790del	GRCh38
NC_000003.11:g.37049873_37052281del , CM000665.1:g.37049873_37052281del	GRCh37
NC_000003.10:g.37024877_37027285del	NCBI36
NG_007109.2:g.20033_22441del , LRG_216:g.20033_22441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.454-432_546-1030del
ENST00000429117.6:c.160-432_252-1030del
ENST00000450420.6:c.454-432_546-1030del
ENST00000456676.7:c.454-432_546-1030del
ENST00000458009.6:c.454-432_546-1030del
ENST00000492474.6:c.-270-432_-178-1030del
ENST00000616768.6:c.454-432_546-1030del
ENST00000673673.2:c.454-432_546-1030del
ENST00000231790.8:c.454-432_546-1030del
ENST00000413212.2:c.-270-432_-178-1030del
ENST00000432299.6:c.*534-432_*626-1030del
ENST00000441265.6:c.-270-432_-178-1030del
ENST00000442249.6:n.469-432_561-1030del
ENST00000447829.6:c.91-432_183-1030del
ENST00000539477.6:c.-179+1319_-178-1030del	ENSP00000443665.1:n.-179+1319_-178-1030del
ENST00000673673.1:c.407-432_499-1030del
ENST00000673713.1:n.485-432_577-1030del
ENST00000673715.1:c.454-432_546-1030del
ENST00000673897.1:c.*246-432_*338-1030del
ENST00000673899.1:c.454-432_546-1030del
ENST00000673947.1:c.*594-432_*686-1030del
ENST00000673972.1:c.*332-432_*424-1030del
ENST00000673990.1:n.439-432_531-1030del
ENST00000674019.1:c.-270-432_-178-1030del
ENST00000674107.1:n.396-432_488-1030del
ENST00000674111.1:c.454-432_546-1030del
ENST00000231790.6:c.454-432_546-1030del
ENST00000432299.5:c.*534-432_*626-1030del
ENST00000435176.5:c.160-432_252-1030del
ENST00000441265.5:c.-179+1319_-178-1030del	ENSP00000398392.1:n.-179+1319_-178-1030del
ENST00000442249.5:c.*246-432_*338-1030del
ENST00000454028.5:c.*327-432_*419-1030del
ENST00000455445.6:c.-270-432_-178-1030del
ENST00000456676.6:c.429-432_521-1030del
ENST00000457004.5:c.*233-432_*325-1030del
ENST00000458205.6:c.-270-432_-178-1030del
ENST00000485889.1:n.458-432_550-1030del
ENST00000492474.5:n.477-432_569-1030del
ENST00000536378.5:c.-270-432_-178-1030del
ENST00000539477.5:c.-179+1319_-178-1030del	ENSP00000443665.1:n.-179+1319_-178-1030del
NM_000249.3:c.454-432_546-1030del , LRG_216t1:c.454-432_546-1030del
NM_001167617.1:c.160-432_252-1030del
NM_001167618.1:c.-270-432_-178-1030del
NM_001167619.1:c.-179+1319_-178-1030del	NP_001161091.1:n.-179+1319_-178-1030del
NM_001258271.1:c.454-432_546-1030del
NM_001258273.1:c.-270-432_-178-1030del
NM_001258274.1:c.-270-432_-178-1030del
XM_005265161.1:c.454-432_546-1030del
XM_005265163.1:c.-270-432_-178-1030del
XM_005265164.1:c.-270-432_-178-1030del
XM_005265166.1:c.-476-432_-384-1030del
XM_011533727.1:c.-373-432_-281-1030del
NM_001167617.2:c.160-432_252-1030del
NM_001167618.2:c.-270-432_-178-1030del
NM_001167619.2:c.-179+1319_-178-1030del	NP_001161091.1:n.-179+1319_-178-1030del
NM_001258274.2:c.-270-432_-178-1030del
NM_001354615.1:c.-179+1319_-178-1030del	NP_001341544.1:n.-179+1319_-178-1030del
NM_001354616.1:c.-179+1319_-178-1030del	NP_001341545.1:n.-179+1319_-178-1030del
NM_001354617.1:c.-270-432_-178-1030del
NM_001354618.1:c.-270-432_-178-1030del
NM_001354619.1:c.-270-432_-178-1030del
NM_001354620.1:c.160-432_252-1030del
NM_001354621.1:c.-363-432_-271-1030del
NM_001354622.1:c.-476-432_-384-1030del
NM_001354623.1:c.-476-432_-384-1030del
NM_001354624.1:c.-373-432_-281-1030del
NM_001354625.1:c.-282+1319_-281-1030del	NP_001341554.1:n.-282+1319_-281-1030del
NM_001354626.1:c.-373-432_-281-1030del
NM_001354627.1:c.-373-432_-281-1030del
NM_001354628.1:c.454-432_546-1030del
NM_001354629.1:c.355-432_447-1030del
NM_001354630.1:c.454-432_546-1030del
XM_005265161.2:c.454-432_546-1030del
XM_017006450.2:c.-363-432_-271-1030del
NM_000249.4:c.454-432_546-1030del
NM_001167617.3:c.160-432_252-1030del
NM_001167618.3:c.-270-432_-178-1030del
NM_001167619.3:c.-179+1319_-178-1030del	NP_001161091.1:n.-179+1319_-178-1030del
NM_001258271.2:c.454-432_546-1030del
NM_001258273.2:c.-270-432_-178-1030del
NM_001258274.3:c.-270-432_-178-1030del
NM_001354615.2:c.-179+1319_-178-1030del	NP_001341544.1:n.-179+1319_-178-1030del
NM_001354616.2:c.-179+1319_-178-1030del	NP_001341545.1:n.-179+1319_-178-1030del
NM_001354617.2:c.-270-432_-178-1030del
NM_001354618.2:c.-270-432_-178-1030del
NM_001354619.2:c.-270-432_-178-1030del
NM_001354620.2:c.160-432_252-1030del
NM_001354621.2:c.-363-432_-271-1030del
NM_001354622.2:c.-476-432_-384-1030del
NM_001354623.2:c.-476-432_-384-1030del
NM_001354624.2:c.-373-432_-281-1030del
NM_001354625.2:c.-282+1319_-281-1030del	NP_001341554.1:n.-282+1319_-281-1030del
NM_001354626.2:c.-373-432_-281-1030del
NM_001354627.2:c.-373-432_-281-1030del
NM_001354628.2:c.454-432_546-1030del
NM_001354629.2:c.355-432_447-1030del
NM_001354630.2:c.454-432_546-1030del