Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88738000del , CM000664.2:g.88738000del | GRCh38 |
| NC_000002.11:g.89037517del , CM000664.1:g.89037517del | GRCh37 |
| NC_000002.10:g.88818632del | NCBI36 |
| NG_016710.1:g.51342del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144563.3:c.762del MANE Select | NP_653164.2:p.Asn255IlefsTer17 |
| ENST00000283646.5:c.762del MANE Select | ENSP00000283646.3:p.Asn255IlefsTer17 |
| NM_144563.2:c.762del | NP_653164.2:p.Asn255IlefsTer17 |
| ENST00000283646.4:c.762del | ENSP00000283646.3:p.Asn255IlefsTer17 |