Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431602_23431604del , CM000676.2:g.23431602_23431604del | GRCh38 |
| NC_000014.8:g.23900811_23900813del , CM000676.1:g.23900811_23900813del | GRCh37 |
| NC_000014.7:g.22970651_22970653del | NCBI36 |
| NG_007884.1:g.9060_9062del , LRG_384:g.9060_9062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.715_717del MANE Select | ENSP00000347507.3:p.Asp239del | |
| ENST00000355349.3:c.715_717del | ENSP00000347507.3:p.Asp239del | |
| NM_000257.3:c.715_717del | NP_000248.2:p.Asp239del | |
| XR_245686.3:n.821_823del | ||
| XM_017021340.1:c.715_717del | XP_016876829.1:p.Asp239del | |
| NM_000257.4:c.715_717del MANE Select | NP_000248.2:p.Asp239del |