Canonical Allele Identifier: CA1357864600
Gene: MLH1 HGNC NCBI
EPM2AIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993289_36993290delinsTC , CM000665.2:g.36993289_36993290delinsTC GRCh38
NC_000003.11:g.37034780_37034781delinsTC , CM000665.1:g.37034780_37034781delinsTC GRCh37
NC_000003.10:g.37009784_37009785delinsTC NCBI36
NG_007109.2:g.4940_4941delinsTC , LRG_216:g.4940_4941delinsTC
NG_008418.1:g.5015_5016delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000673673.2:c.-259_-258delinsTC (MLH1) ENSP00000500979.2:n.-259_-258delinsTC
NM_014805.3:c.-213_-212delinsGA (EPM2AIP1) NP_055620.1:n.-213_-212delinsGA