Canonical Allele Identifier: CA331030

Gene: MLH1

Linked Data

• ClinVar Variation Id: 90196
• ClinVar RCV Id: RCV000075684
• MyVariant Identifiers: chr3:g.37048067_37049287del (hg19) ; chr3:g.37006576_37007796del (hg38)
• PubMed: PMID:12624159

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37006576_37007796del , CM000665.2:g.37006576_37007796del	GRCh38
NC_000003.11:g.37048067_37049287del , CM000665.1:g.37048067_37049287del	GRCh37
NC_000003.10:g.37023071_37024291del	NCBI36
NG_007109.2:g.18227_19447del , LRG_216:g.18227_19447del

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.381-415_453+733del
ENST00000429117.6:c.87-415_159+733del
ENST00000450420.6:c.381-415_453+733del
ENST00000456676.7:c.381-415_453+733del
ENST00000458009.6:c.381-415_453+733del
ENST00000492474.6:c.-343-415_-271+733del
ENST00000616768.6:c.381-415_453+733del
ENST00000673673.2:c.381-415_453+733del
ENST00000231790.8:c.381-415_453+733del
ENST00000413212.2:c.-343-415_-271+733del
ENST00000432299.6:c.*461-415_*533+733del
ENST00000441265.6:c.-343-415_-271+733del
ENST00000442249.6:n.396-415_468+733del
ENST00000447829.6:c.18-415_90+733del
ENST00000539477.6:c.-251-415_-179+733del
ENST00000673673.1:c.334-415_406+733del
ENST00000673713.1:n.412-415_484+733del
ENST00000673715.1:c.381-415_453+733del
ENST00000673897.1:c.*173-415_*245+733del
ENST00000673899.1:c.381-415_453+733del
ENST00000673947.1:c.*521-415_*593+733del
ENST00000673972.1:c.*259-415_*331+733del
ENST00000673990.1:n.366-415_438+733del
ENST00000674019.1:c.-343-415_-271+733del
ENST00000674107.1:n.323-415_395+733del
ENST00000674111.1:c.381-415_453+733del
ENST00000231790.6:c.381-415_453+733del
ENST00000429117.5:c.87-415_159+733del
ENST00000432299.5:c.*461-415_*533+733del
ENST00000435176.5:c.87-415_159+733del
ENST00000441265.5:c.-251-415_-179+733del
ENST00000442249.5:c.*173-415_*245+733del
ENST00000454028.5:c.*254-415_*326+733del
ENST00000455445.6:c.-343-415_-271+733del
ENST00000456676.6:c.356-415_428+733del
ENST00000457004.5:c.*160-415_*232+733del
ENST00000458205.6:c.-343-415_-271+733del
ENST00000466900.5:n.414-415_486+733del
ENST00000485889.1:n.385-415_457+733del
ENST00000492474.5:n.404-415_476+733del
ENST00000536378.5:c.-343-415_-271+733del
ENST00000539477.5:c.-251-415_-179+733del
NM_000249.3:c.381-415_453+733del , LRG_216t1:c.381-415_453+733del
NM_001167617.1:c.87-415_159+733del
NM_001167618.1:c.-343-415_-271+733del
NM_001167619.1:c.-251-415_-179+733del
NM_001258271.1:c.381-415_453+733del
NM_001258273.1:c.-343-415_-271+733del
NM_001258274.1:c.-343-415_-271+733del
XM_005265161.1:c.381-415_453+733del
XM_005265163.1:c.-343-415_-271+733del
XM_005265164.1:c.-343-415_-271+733del
XM_005265166.1:c.-549-415_-477+733del
XM_011533727.1:c.-446-415_-374+733del
NM_001167617.2:c.87-415_159+733del
NM_001167618.2:c.-343-415_-271+733del
NM_001167619.2:c.-251-415_-179+733del
NM_001258274.2:c.-343-415_-271+733del
NM_001354615.1:c.-251-415_-179+733del
NM_001354616.1:c.-251-415_-179+733del
NM_001354617.1:c.-343-415_-271+733del
NM_001354618.1:c.-343-415_-271+733del
NM_001354619.1:c.-343-415_-271+733del
NM_001354620.1:c.87-415_159+733del
NM_001354621.1:c.-436-415_-364+733del
NM_001354622.1:c.-549-415_-477+733del
NM_001354623.1:c.-549-415_-477+733del
NM_001354624.1:c.-446-415_-374+733del
NM_001354625.1:c.-354-415_-282+733del
NM_001354626.1:c.-446-415_-374+733del
NM_001354627.1:c.-446-415_-374+733del
NM_001354628.1:c.381-415_453+733del
NM_001354629.1:c.282-415_354+733del
NM_001354630.1:c.381-415_453+733del
XM_005265161.2:c.381-415_453+733del
XM_017006450.2:c.-436-415_-364+733del
NM_000249.4:c.381-415_453+733del
NM_001167617.3:c.87-415_159+733del
NM_001167618.3:c.-343-415_-271+733del
NM_001167619.3:c.-251-415_-179+733del
NM_001258271.2:c.381-415_453+733del
NM_001258273.2:c.-343-415_-271+733del
NM_001258274.3:c.-343-415_-271+733del
NM_001354615.2:c.-251-415_-179+733del
NM_001354616.2:c.-251-415_-179+733del
NM_001354617.2:c.-343-415_-271+733del
NM_001354618.2:c.-343-415_-271+733del
NM_001354619.2:c.-343-415_-271+733del
NM_001354620.2:c.87-415_159+733del
NM_001354621.2:c.-436-415_-364+733del
NM_001354622.2:c.-549-415_-477+733del
NM_001354623.2:c.-549-415_-477+733del
NM_001354624.2:c.-446-415_-374+733del
NM_001354625.2:c.-354-415_-282+733del
NM_001354626.2:c.-446-415_-374+733del
NM_001354627.2:c.-446-415_-374+733del
NM_001354628.2:c.381-415_453+733del
NM_001354629.2:c.282-415_354+733del
NM_001354630.2:c.381-415_453+733del