Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993261del , CM000665.2:g.36993261del | GRCh38 |
| NC_000003.11:g.37034752del , CM000665.1:g.37034752del | GRCh37 |
| NC_000003.10:g.37009756del | NCBI36 |
| NG_007109.2:g.4912del , LRG_216:g.4912del | |
| NG_008418.1:g.5048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-287del (MLH1) | ENSP00000500979.2:n.-287del | |
| NM_014805.3:c.-180del (EPM2AIP1) | NP_055620.1:n.-180del |