Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751968del , CM000677.2:g.74751968del | GRCh38 |
| NC_000015.9:g.75044309del , CM000677.1:g.75044309del | GRCh37 |
| NC_000015.8:g.72831362del | NCBI36 |
| NG_008431.1:g.34427del | |
| NG_008431.2:g.34427del | |
| NG_061543.1:g.8124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1042+114del MANE Select | ENSP00000342007.4:n.1042+114del | |
| ENST00000343932.4:c.1042+114del | ENSP00000342007.4:n.1042+114del | |
| NM_000761.4:c.1042+114del | NP_000752.2:n.1042+114del | |
| NM_000761.5:c.1042+114del MANE Select | NP_000752.2:n.1042+114del |