Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42960663del , CM000677.2:g.42960663del | GRCh38 |
| NC_000015.9:g.43252861del , CM000677.1:g.43252861del | GRCh37 |
| NC_000015.8:g.41040153del | NCBI36 |
| NG_012182.1:g.150432del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.4745del MANE Select | NP_777576.1:p.Asn1582ThrfsTer13 |
| ENST00000290650.9:c.4745del MANE Select | ENSP00000290650.4:p.Asn1582ThrfsTer13 |
| NM_174916.2:c.4745del | NP_777576.1:p.Asn1582ThrfsTer13 |
| ENST00000290650.8:c.4745del | ENSP00000290650.4:p.Asn1582ThrfsTer13 |