Canonical Allele Identifier: CA915942384
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821604
ClinVar RCV Id: RCV001016165
dbSNP Id: rs1575373029
gnomAD v3: 3-36993284-AG-A
gnomAD v4: 3-36993284-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993285del , CM000665.2:g.36993285del GRCh38
NC_000003.11:g.37034776del , CM000665.1:g.37034776del GRCh37
NC_000003.10:g.37009780del NCBI36
NG_007109.2:g.4936del , LRG_216:g.4936del
NG_008418.1:g.5020del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-263del (MLH1) ENSP00000500979.2:n.-263del
NM_014805.3:c.-208del (EPM2AIP1) NP_055620.1:n.-208del
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