Canonical Allele Identifier: CA357264

Gene: MLH1

Linked Data

• MyVariant Identifiers: chr3:g.37049179_37051317delinsTG (hg19) ; chr3:g.37007688_37009826delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.37007688_37009825delinsT , CM000665.2:g.37007688_37009825delinsT	GRCh38
NC_000003.11:g.37049179_37051316delinsT , CM000665.1:g.37049179_37051316delinsT	GRCh37
NC_000003.10:g.37024183_37026320delinsT	NCBI36
NG_007109.2:g.19339_21476delinsT , LRG_216:g.19339_21476delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413740.2:c.453+625_545+920delinsT
ENST00000429117.6:c.159+625_251+920delinsT
ENST00000450420.6:c.453+625_545+920delinsT
ENST00000456676.7:c.453+625_545+920delinsT
ENST00000458009.6:c.453+625_545+920delinsT
ENST00000492474.6:c.-271+625_-179+920delinsT
ENST00000616768.6:c.453+625_545+920delinsT
ENST00000673673.2:c.453+625_545+920delinsT
ENST00000231790.8:c.453+625_545+920delinsT
ENST00000413212.2:c.-271+625_-179+920delinsT
ENST00000432299.6:c.*533+625_*625+920delinsT
ENST00000441265.6:c.-271+625_-179+920delinsT
ENST00000442249.6:n.468+625_560+920delinsT
ENST00000447829.6:c.90+625_182+920delinsT
ENST00000539477.6:c.-179+625_-178-1995delinsT	ENSP00000443665.1:n.-179+625_-178-1995delinsT
ENST00000673673.1:c.406+625_498+920delinsT
ENST00000673713.1:n.484+625_576+920delinsT
ENST00000673715.1:c.453+625_545+920delinsT
ENST00000673897.1:c.*245+625_*337+920delinsT
ENST00000673899.1:c.453+625_545+920delinsT
ENST00000673947.1:c.*593+625_*685+920delinsT
ENST00000673972.1:c.*331+625_*423+920delinsT
ENST00000673990.1:n.438+625_530+920delinsT
ENST00000674019.1:c.-271+625_-179+920delinsT
ENST00000674107.1:n.395+625_487+920delinsT
ENST00000674111.1:c.453+625_545+920delinsT
ENST00000231790.6:c.453+625_545+920delinsT
ENST00000432299.5:c.*533+625_*625+920delinsT
ENST00000435176.5:c.159+625_251+920delinsT
ENST00000441265.5:c.-179+625_-178-1995delinsT	ENSP00000398392.1:n.-179+625_-178-1995delinsT
ENST00000442249.5:c.*245+625_*337+920delinsT
ENST00000454028.5:c.*326+625_*418+920delinsT
ENST00000455445.6:c.-271+625_-179+920delinsT
ENST00000456676.6:c.428+625_520+920delinsT
ENST00000457004.5:c.*232+625_*324+920delinsT
ENST00000458205.6:c.-271+625_-179+920delinsT
ENST00000485889.1:n.457+625_549+920delinsT
ENST00000492474.5:n.476+625_568+920delinsT
ENST00000536378.5:c.-271+625_-179+920delinsT
ENST00000539477.5:c.-179+625_-178-1995delinsT	ENSP00000443665.1:n.-179+625_-178-1995delinsT
NM_000249.3:c.453+625_545+920delinsT , LRG_216t1:c.453+625_545+920delinsT
NM_001167617.1:c.159+625_251+920delinsT
NM_001167618.1:c.-271+625_-179+920delinsT
NM_001167619.1:c.-179+625_-178-1995delinsT	NP_001161091.1:n.-179+625_-178-1995delinsT
NM_001258271.1:c.453+625_545+920delinsT
NM_001258273.1:c.-271+625_-179+920delinsT
NM_001258274.1:c.-271+625_-179+920delinsT
XM_005265161.1:c.453+625_545+920delinsT
XM_005265163.1:c.-271+625_-179+920delinsT
XM_005265164.1:c.-271+625_-179+920delinsT
XM_005265166.1:c.-477+625_-385+920delinsT
XM_011533727.1:c.-374+625_-282+920delinsT
NM_001167617.2:c.159+625_251+920delinsT
NM_001167618.2:c.-271+625_-179+920delinsT
NM_001167619.2:c.-179+625_-178-1995delinsT	NP_001161091.1:n.-179+625_-178-1995delinsT
NM_001258274.2:c.-271+625_-179+920delinsT
NM_001354615.1:c.-179+625_-178-1995delinsT	NP_001341544.1:n.-179+625_-178-1995delinsT
NM_001354616.1:c.-179+625_-178-1995delinsT	NP_001341545.1:n.-179+625_-178-1995delinsT
NM_001354617.1:c.-271+625_-179+920delinsT
NM_001354618.1:c.-271+625_-179+920delinsT
NM_001354619.1:c.-271+625_-179+920delinsT
NM_001354620.1:c.159+625_251+920delinsT
NM_001354621.1:c.-364+625_-272+920delinsT
NM_001354622.1:c.-477+625_-385+920delinsT
NM_001354623.1:c.-477+625_-385+920delinsT
NM_001354624.1:c.-374+625_-282+920delinsT
NM_001354625.1:c.-282+625_-281-1995delinsT	NP_001341554.1:n.-282+625_-281-1995delinsT
NM_001354626.1:c.-374+625_-282+920delinsT
NM_001354627.1:c.-374+625_-282+920delinsT
NM_001354628.1:c.453+625_545+920delinsT
NM_001354629.1:c.354+625_446+920delinsT
NM_001354630.1:c.453+625_545+920delinsT
XM_005265161.2:c.453+625_545+920delinsT
XM_017006450.2:c.-364+625_-272+920delinsT
NM_000249.4:c.453+625_545+920delinsT
NM_001167617.3:c.159+625_251+920delinsT
NM_001167618.3:c.-271+625_-179+920delinsT
NM_001167619.3:c.-179+625_-178-1995delinsT	NP_001161091.1:n.-179+625_-178-1995delinsT
NM_001258271.2:c.453+625_545+920delinsT
NM_001258273.2:c.-271+625_-179+920delinsT
NM_001258274.3:c.-271+625_-179+920delinsT
NM_001354615.2:c.-179+625_-178-1995delinsT	NP_001341544.1:n.-179+625_-178-1995delinsT
NM_001354616.2:c.-179+625_-178-1995delinsT	NP_001341545.1:n.-179+625_-178-1995delinsT
NM_001354617.2:c.-271+625_-179+920delinsT
NM_001354618.2:c.-271+625_-179+920delinsT
NM_001354619.2:c.-271+625_-179+920delinsT
NM_001354620.2:c.159+625_251+920delinsT
NM_001354621.2:c.-364+625_-272+920delinsT
NM_001354622.2:c.-477+625_-385+920delinsT
NM_001354623.2:c.-477+625_-385+920delinsT
NM_001354624.2:c.-374+625_-282+920delinsT
NM_001354625.2:c.-282+625_-281-1995delinsT	NP_001341554.1:n.-282+625_-281-1995delinsT
NM_001354626.2:c.-374+625_-282+920delinsT
NM_001354627.2:c.-374+625_-282+920delinsT
NM_001354628.2:c.453+625_545+920delinsT
NM_001354629.2:c.354+625_446+920delinsT
NM_001354630.2:c.453+625_545+920delinsT