Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850936del , CM000681.2:g.35850936del | GRCh38 |
| NC_000019.9:g.36341838del , CM000681.1:g.36341838del | GRCh37 |
| NC_000019.8:g.41033678del | NCBI36 |
| NG_013356.2:g.23352del , LRG_693:g.23352del | |
| NG_051206.1:g.4302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.526+25del MANE Select | ENSP00000368190.4:n.526+25del | |
| ENST00000353632.6:c.526+25del | ENSP00000343634.5:n.526+25del | |
| ENST00000378910.9:c.526+25del | ENSP00000368190.4:n.526+25del | |
| NM_004646.3:c.526+25del , LRG_693t1:c.526+25del | NP_004637.1:n.526+25del | |
| NM_004646.4:c.526+25del MANE Select | NP_004637.1:n.526+25del |