Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866873del , CM000686.2:g.2866873del | GRCh38 |
| NC_000024.9:g.2734914del , CM000686.1:g.2734914del | GRCh37 |
| NC_000024.8:g.2794914del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.771del MANE Select | ENSP00000250784.7:p.Thr258ProfsTer10 | |
| ENST00000250784.12:c.771del | ENSP00000250784.7:p.Thr258ProfsTer10 | |
| ENST00000477725.1:n.915del | ||
| ENST00000515575.1:n.42+12102del | ||
| NM_001008.3:c.771del | NP_000999.1:p.Thr258ProfsTer10 | |
| NM_001008.4:c.771del MANE Select | NP_000999.1:p.Thr258ProfsTer10 |