Canonical Allele Identifier: CA906755312
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 822588
ClinVar RCV Id: RCV001018052
dbSNP Id: rs1327920237
gnomAD v3: 3-36993244-TCCCCGAGCTCCTAAAAACGAA-T
gnomAD v4: 3-36993244-TCCCCGAGCTCCTAAAAACGAA-T
MyVariant Identifiers: chr3:g.37034736_37034756del (hg19) chr3:g.36993245_36993265del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993247_36993267del , CM000665.2:g.36993247_36993267del GRCh38
NC_000003.11:g.37034738_37034758del , CM000665.1:g.37034738_37034758del GRCh37
NC_000003.10:g.37009742_37009762del NCBI36
NG_007109.2:g.4898_4918del , LRG_216:g.4898_4918del
NG_008418.1:g.5040_5060del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-301_-281del (MLH1) ENSP00000500979.2:n.-301_-281del
NM_014805.3:c.-188_-168del (EPM2AIP1) NP_055620.1:n.-188_-168del
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