Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791776_50791781del , CM000681.2:g.50791776_50791781del | GRCh38 |
| NC_000019.9:g.51295033_51295038del , CM000681.1:g.51295033_51295038del | GRCh37 |
| NC_000019.8:g.55986845_55986850del | NCBI36 |
| NG_052652.1:g.6362_6367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.424_429del (ACP4) MANE Select | ENSP00000270593.1:p.His142_Thr143del | |
| ENST00000636757.1:c.-60+625_-60+630del (SMIM47) | ENSP00000489695.1:n.-60+625_-60+630del | |
| ENST00000270593.1:c.424_429del (ACP4) | ENSP00000270593.1:p.His142_Thr143del | |
| NM_033068.2:c.424_429del (ACP4) | NP_149059.1:p.His142_Thr143del | |
| XR_936026.1:n.424+625_424+630del | ||
| XR_936026.2:n.434+625_434+630del | ||
| NM_033068.3:c.424_429del (ACP4) MANE Select | NP_149059.1:p.His142_Thr143del |