Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791836_50791839dup , CM000681.2:g.50791836_50791839dup | GRCh38 |
| NC_000019.9:g.51295093_51295096dup , CM000681.1:g.51295093_51295096dup | GRCh37 |
| NC_000019.8:g.55986905_55986908dup | NCBI36 |
| NG_052652.1:g.6422_6425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.450+34_450+37dup (ACP4) MANE Select | ENSP00000270593.1:n.450+34_450+37dup | |
| ENST00000636757.1:c.-60+573_-60+576dup (SMIM47) | ENSP00000489695.1:n.-60+573_-60+576dup | |
| ENST00000270593.1:c.450+34_450+37dup (ACP4) | ENSP00000270593.1:n.450+34_450+37dup | |
| NM_033068.2:c.450+34_450+37dup (ACP4) | NP_149059.1:n.450+34_450+37dup | |
| XR_936026.1:n.424+573_424+576dup | ||
| XR_936026.2:n.434+573_434+576dup | ||
| NM_033068.3:c.450+34_450+37dup (ACP4) MANE Select | NP_149059.1:n.450+34_450+37dup |