Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424297del , CM000676.2:g.23424297del | GRCh38 |
| NC_000014.8:g.23893506del , CM000676.1:g.23893506del | GRCh37 |
| NC_000014.7:g.22963346del | NCBI36 |
| NG_007884.1:g.16366del , LRG_384:g.16366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-147del MANE Select | ENSP00000347507.3:n.2680-147del | |
| ENST00000355349.3:c.2680-147del | ENSP00000347507.3:n.2680-147del | |
| NM_000257.3:c.2680-147del | NP_000248.2:n.2680-147del | |
| XR_245686.3:n.2786-147del | ||
| XM_017021340.1:c.2680-147del | XP_016876829.1:n.2680-147del | |
| NM_000257.4:c.2680-147del MANE Select | NP_000248.2:n.2680-147del |