Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842368del , CM000681.2:g.35842368del | GRCh38 |
| NC_000019.9:g.36333270del , CM000681.1:g.36333270del | GRCh37 |
| NC_000019.8:g.41025110del | NCBI36 |
| NG_013356.2:g.31922del , LRG_693:g.31922del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2506+13del MANE Select | ENSP00000368190.4:n.2506+13del | |
| ENST00000353632.6:c.2506+13del | ENSP00000343634.5:n.2506+13del | |
| ENST00000378910.9:c.2506+13del | ENSP00000368190.4:n.2506+13del | |
| NM_004646.3:c.2506+13del , LRG_693t1:c.2506+13del | NP_004637.1:n.2506+13del | |
| NM_004646.4:c.2506+13del MANE Select | NP_004637.1:n.2506+13del |