Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791695_50791696del , CM000681.2:g.50791695_50791696del | GRCh38 |
| NC_000019.9:g.51294952_51294953del , CM000681.1:g.51294952_51294953del | GRCh37 |
| NC_000019.8:g.55986764_55986765del | NCBI36 |
| NG_052652.1:g.6281_6282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.343_344del (ACP4) MANE Select | ENSP00000270593.1:p.Ser115CysfsTer? | |
| ENST00000636757.1:c.-60+712_-60+713del (SMIM47) | ENSP00000489695.1:n.-60+712_-60+713del | |
| ENST00000270593.1:c.343_344del (ACP4) | ENSP00000270593.1:p.Ser115CysfsTer? | |
| NM_033068.2:c.343_344del (ACP4) | NP_149059.1:p.Ser115CysfsTer? | |
| XR_936026.1:n.424+712_424+713del | ||
| XR_936026.2:n.434+712_434+713del | ||
| NM_033068.3:c.343_344del (ACP4) MANE Select | NP_149059.1:p.Ser115CysfsTer? |