Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053163del , CM000664.2:g.223053163del | GRCh38 |
| NC_000002.11:g.223917881del , CM000664.1:g.223917881del | GRCh37 |
| NC_000002.10:g.223626125del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.333del MANE Select | ENSP00000281830.5:p.Ala112ArgfsTer14 | |
| ENST00000281830.3:c.486del | ENSP00000281830.4:p.Ala163ArgfsTer14 | |
| ENST00000488477.2:n.75+889del | ||
| NM_080671.3:c.486del | NP_542402.3:p.Ala163ArgfsTer14 | |
| NM_080671.4:c.333del MANE Select | NP_542402.4:p.Ala112ArgfsTer14 |