Canonical Allele Identifier: CA331057

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90235
• ClinVar RCV Id: RCV000075724
• MyVariant Identifiers: chr3:g.37049800_37052209del (hg19) ; chr3:g.37008309_37010718del (hg38)
• PubMed: PMID:12658575 ; PMID:15942939 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37008313_37010722del , CM000665.2:g.37008313_37010722del	GRCh38
NC_000003.11:g.37049804_37052213del , CM000665.1:g.37049804_37052213del	GRCh37
NC_000003.10:g.37024808_37027217del	NCBI36
NG_007109.2:g.19964_22373del , LRG_216:g.19964_22373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.454-501_546-1098del
ENST00000429117.6:c.160-501_252-1098del
ENST00000450420.6:c.454-501_546-1098del
ENST00000456676.7:c.454-501_546-1098del
ENST00000458009.6:c.454-501_546-1098del
ENST00000492474.6:c.-270-501_-178-1098del
ENST00000616768.6:c.454-501_546-1098del
ENST00000673673.2:c.454-501_546-1098del
ENST00000231790.8:c.454-501_546-1098del
ENST00000413212.2:c.-270-501_-178-1098del
ENST00000432299.6:c.*534-501_*626-1098del
ENST00000441265.6:c.-270-501_-178-1098del
ENST00000442249.6:n.469-501_561-1098del
ENST00000447829.6:c.91-501_183-1098del
ENST00000539477.6:c.-179+1250_-178-1098del	ENSP00000443665.1:n.-179+1250_-178-1098del
ENST00000673673.1:c.407-501_499-1098del
ENST00000673713.1:n.485-501_577-1098del
ENST00000673715.1:c.454-501_546-1098del
ENST00000673897.1:c.*246-501_*338-1098del
ENST00000673899.1:c.454-501_546-1098del
ENST00000673947.1:c.*594-501_*686-1098del
ENST00000673972.1:c.*332-501_*424-1098del
ENST00000673990.1:n.439-501_531-1098del
ENST00000674019.1:c.-270-501_-178-1098del
ENST00000674107.1:n.396-501_488-1098del
ENST00000674111.1:c.454-501_546-1098del
ENST00000231790.6:c.454-501_546-1098del
ENST00000432299.5:c.*534-501_*626-1098del
ENST00000435176.5:c.160-501_252-1098del
ENST00000441265.5:c.-179+1250_-178-1098del	ENSP00000398392.1:n.-179+1250_-178-1098del
ENST00000442249.5:c.*246-501_*338-1098del
ENST00000454028.5:c.*327-501_*419-1098del
ENST00000455445.6:c.-270-501_-178-1098del
ENST00000456676.6:c.429-501_521-1098del
ENST00000457004.5:c.*233-501_*325-1098del
ENST00000458205.6:c.-270-501_-178-1098del
ENST00000485889.1:n.458-501_550-1098del
ENST00000492474.5:n.477-501_569-1098del
ENST00000536378.5:c.-270-501_-178-1098del
ENST00000539477.5:c.-179+1250_-178-1098del	ENSP00000443665.1:n.-179+1250_-178-1098del
NM_000249.3:c.454-501_546-1098del , LRG_216t1:c.454-501_546-1098del
NM_001167617.1:c.160-501_252-1098del
NM_001167618.1:c.-270-501_-178-1098del
NM_001167619.1:c.-179+1250_-178-1098del	NP_001161091.1:n.-179+1250_-178-1098del
NM_001258271.1:c.454-501_546-1098del
NM_001258273.1:c.-270-501_-178-1098del
NM_001258274.1:c.-270-501_-178-1098del
XM_005265161.1:c.454-501_546-1098del
XM_005265163.1:c.-270-501_-178-1098del
XM_005265164.1:c.-270-501_-178-1098del
XM_005265166.1:c.-476-501_-384-1098del
XM_011533727.1:c.-373-501_-281-1098del
NM_001167617.2:c.160-501_252-1098del
NM_001167618.2:c.-270-501_-178-1098del
NM_001167619.2:c.-179+1250_-178-1098del	NP_001161091.1:n.-179+1250_-178-1098del
NM_001258274.2:c.-270-501_-178-1098del
NM_001354615.1:c.-179+1250_-178-1098del	NP_001341544.1:n.-179+1250_-178-1098del
NM_001354616.1:c.-179+1250_-178-1098del	NP_001341545.1:n.-179+1250_-178-1098del
NM_001354617.1:c.-270-501_-178-1098del
NM_001354618.1:c.-270-501_-178-1098del
NM_001354619.1:c.-270-501_-178-1098del
NM_001354620.1:c.160-501_252-1098del
NM_001354621.1:c.-363-501_-271-1098del
NM_001354622.1:c.-476-501_-384-1098del
NM_001354623.1:c.-476-501_-384-1098del
NM_001354624.1:c.-373-501_-281-1098del
NM_001354625.1:c.-282+1250_-281-1098del	NP_001341554.1:n.-282+1250_-281-1098del
NM_001354626.1:c.-373-501_-281-1098del
NM_001354627.1:c.-373-501_-281-1098del
NM_001354628.1:c.454-501_546-1098del
NM_001354629.1:c.355-501_447-1098del
NM_001354630.1:c.454-501_546-1098del
XM_005265161.2:c.454-501_546-1098del
XM_017006450.2:c.-363-501_-271-1098del
NM_000249.4:c.454-501_546-1098del
NM_001167617.3:c.160-501_252-1098del
NM_001167618.3:c.-270-501_-178-1098del
NM_001167619.3:c.-179+1250_-178-1098del	NP_001161091.1:n.-179+1250_-178-1098del
NM_001258271.2:c.454-501_546-1098del
NM_001258273.2:c.-270-501_-178-1098del
NM_001258274.3:c.-270-501_-178-1098del
NM_001354615.2:c.-179+1250_-178-1098del	NP_001341544.1:n.-179+1250_-178-1098del
NM_001354616.2:c.-179+1250_-178-1098del	NP_001341545.1:n.-179+1250_-178-1098del
NM_001354617.2:c.-270-501_-178-1098del
NM_001354618.2:c.-270-501_-178-1098del
NM_001354619.2:c.-270-501_-178-1098del
NM_001354620.2:c.160-501_252-1098del
NM_001354621.2:c.-363-501_-271-1098del
NM_001354622.2:c.-476-501_-384-1098del
NM_001354623.2:c.-476-501_-384-1098del
NM_001354624.2:c.-373-501_-281-1098del
NM_001354625.2:c.-282+1250_-281-1098del	NP_001341554.1:n.-282+1250_-281-1098del
NM_001354626.2:c.-373-501_-281-1098del
NM_001354627.2:c.-373-501_-281-1098del
NM_001354628.2:c.454-501_546-1098del
NM_001354629.2:c.355-501_447-1098del
NM_001354630.2:c.454-501_546-1098del