Canonical Allele Identifier: CA1357864596
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993284_36993285delinsAG , CM000665.2:g.36993284_36993285delinsAG GRCh38
NC_000003.11:g.37034775_37034776delinsAG , CM000665.1:g.37034775_37034776delinsAG GRCh37
NC_000003.10:g.37009779_37009780delinsAG NCBI36
NG_007109.2:g.4935_4936delinsAG , LRG_216:g.4935_4936delinsAG
NG_008418.1:g.5020_5021delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-264_-263delinsAG (MLH1) ENSP00000500979.2:n.-264_-263delinsAG
NM_014805.3:c.-208_-207delinsCT (EPM2AIP1) NP_055620.1:n.-208_-207delinsCT