Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23432687del , CM000676.2:g.23432687del | GRCh38 |
| NC_000014.8:g.23901896del , CM000676.1:g.23901896del | GRCh37 |
| NC_000014.7:g.22971736del | NCBI36 |
| NG_007884.1:g.7978del , LRG_384:g.7978del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.457del MANE Select | NP_000248.2:p.His153ThrfsTer14 |
| ENST00000355349.4:c.457del MANE Select | ENSP00000347507.3:p.His153ThrfsTer14 |
| NM_000257.3:c.457del | NP_000248.2:p.His153ThrfsTer14 |
| ENST00000355349.3:c.457del | ENSP00000347507.3:p.His153ThrfsTer14 |
| XM_017021340.1:c.457del | XP_016876829.1:p.His153ThrfsTer14 |
| XR_245686.3:n.563del |