Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644206_133644211del , CM000671.2:g.133644206_133644211del | GRCh38 |
| NC_000009.11:g.136509328_136509333del , CM000671.1:g.136509328_136509333del | GRCh37 |
| NC_000009.10:g.135499149_135499154del | NCBI36 |
| NG_008645.1:g.12844_12849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.922-12_922-7del MANE Select | ENSP00000376776.2:n.922-12_922-7del | |
| ENST00000393056.6:c.922-12_922-7del | ENSP00000376776.2:n.922-12_922-7del | |
| NM_000787.3:c.922-12_922-7del | NP_000778.3:n.922-12_922-7del | |
| NM_000787.4:c.922-12_922-7del MANE Select | NP_000778.3:n.922-12_922-7del |