Canonical Allele Identifier: CA1357864603
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993291_36993292delinsTC , CM000665.2:g.36993291_36993292delinsTC GRCh38
NC_000003.11:g.37034782_37034783delinsTC , CM000665.1:g.37034782_37034783delinsTC GRCh37
NC_000003.10:g.37009786_37009787delinsTC NCBI36
NG_007109.2:g.4942_4943delinsTC , LRG_216:g.4942_4943delinsTC
NG_008418.1:g.5013_5014delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-257_-256delinsTC (MLH1) ENSP00000500979.2:n.-257_-256delinsTC
NM_014805.3:c.-215_-214delinsGA (EPM2AIP1) NP_055620.1:n.-215_-214delinsGA