Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451620del , CM000674.2:g.52451620del | GRCh38 |
| NC_000012.11:g.52845404del , CM000674.1:g.52845404del | GRCh37 |
| NC_000012.10:g.51131671del | NCBI36 |
| NG_008299.1:g.5510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.462del MANE Select | ENSP00000252252.3:p.Ala155ProfsTer? | |
| ENST00000252252.3:c.462del | ENSP00000252252.3:p.Ala155ProfsTer? | |
| NM_005555.3:c.462del | NP_005546.2:p.Ala155ProfsTer? | |
| NM_005555.4:c.462del MANE Select | NP_005546.2:p.Ala155ProfsTer? |