Canonical Allele Identifier: CA915942382
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821831
ClinVar RCV Id: RCV001016644
dbSNP Id: rs1575372965
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993268_36993280del , CM000665.2:g.36993268_36993280del GRCh38
NC_000003.11:g.37034759_37034771del , CM000665.1:g.37034759_37034771del GRCh37
NC_000003.10:g.37009763_37009775del NCBI36
NG_007109.2:g.4919_4931del , LRG_216:g.4919_4931del
NG_008418.1:g.5025_5037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-280_-268del (MLH1) ENSP00000500979.2:n.-280_-268del
NM_014805.3:c.-203_-191del (EPM2AIP1) NP_055620.1:n.-203_-191del
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