Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423904del , CM000676.2:g.23423904del | GRCh38 |
| NC_000014.8:g.23893113del , CM000676.1:g.23893113del | GRCh37 |
| NC_000014.7:g.22962953del | NCBI36 |
| NG_007884.1:g.16759del , LRG_384:g.16759del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.2922+4del MANE Select | NP_000248.2:n.2922+4del |
| ENST00000355349.4:c.2922+4del MANE Select | ENSP00000347507.3:n.2922+4del |
| NM_000257.3:c.2922+4del | NP_000248.2:n.2922+4del |
| ENST00000355349.3:c.2922+4del | ENSP00000347507.3:n.2922+4del |
| XM_017021340.1:c.2922+4del | XP_016876829.1:n.2922+4del |
| XR_245686.3:n.3028+4del |