Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028022_52028025del , CM000666.2:g.52028022_52028025del | GRCh38 |
| NC_000004.11:g.52894188_52894191del , CM000666.1:g.52894188_52894191del | GRCh37 |
| NC_000004.10:g.52588945_52588948del | NCBI36 |
| NG_008891.1:g.15298_15301del , LRG_204:g.15298_15301del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.699_702del MANE Select | ENSP00000370839.6:p.Phe233LeufsTer16 | |
| ENST00000381431.9:c.699_702del | ENSP00000370839.5:p.Phe233LeufsTer16 | |
| NM_000232.4:c.699_702del , LRG_204t1:c.699_702del | NP_000223.1:p.Phe233LeufsTer16 | |
| XM_006714049.2:c.402_405del | XP_006714112.1:p.Phe134LeufsTer16 | |
| XM_011534403.1:c.489_492del | XP_011532705.1:p.Phe163LeufsTer16 | |
| XM_011534404.1:c.402_405del | XP_011532706.1:p.Phe134LeufsTer16 | |
| NM_000232.5:c.699_702del MANE Select | NP_000223.1:p.Phe233LeufsTer16 |