Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526890_7526892del , CM000681.2:g.7526890_7526892del | GRCh38 |
| NC_000019.9:g.7591776_7591778del , CM000681.1:g.7591776_7591778del | GRCh37 |
| NC_000019.8:g.7497776_7497778del | NCBI36 |
| NG_015806.1:g.9281_9283del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.535_537del MANE Select | ENSP00000264079.5:p.Asn179del | |
| ENST00000264079.10:c.535_537del | ENSP00000264079.5:p.Asn179del | |
| ENST00000394321.9:n.615_617del | ||
| ENST00000596008.1:n.497_499del | ||
| ENST00000598406.1:n.356_358del | ||
| ENST00000601003.1:c.535_537del | ENSP00000469074.1:p.Asn179del | |
| NM_020533.2:c.535_537del | NP_065394.1:p.Asn179del | |
| NM_020533.3:c.535_537del MANE Select | NP_065394.1:p.Asn179del |