Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83880245del , CM000675.2:g.83880245del | GRCh38 |
| NC_000013.10:g.84454380del , CM000675.1:g.84454380del | GRCh37 |
| NC_000013.9:g.83352381del | NCBI36 |
| NG_016748.1:g.7150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674365.1:c.1264del MANE Select | ENSP00000501349.1:p.Leu422PhefsTer28 | |
| ENST00000377084.3:c.1264del | ENSP00000366288.2:p.Leu422PhefsTer28 | |
| NM_001281503.1:c.1264del | NP_001268432.1:p.Leu422PhefsTer28 | |
| NM_052910.2:c.1264del | NP_443142.1:p.Leu422PhefsTer28 | |
| NM_001281503.2:c.1264del MANE Select | NP_001268432.1:p.Leu422PhefsTer28 |