Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516425_52516426del , CM000674.2:g.52516425_52516426del | GRCh38 |
| NC_000012.11:g.52910209_52910210del , CM000674.1:g.52910209_52910210del | GRCh37 |
| NC_000012.10:g.51196476_51196477del | NCBI36 |
| NG_008297.1:g.9034_9035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+211_1439+212del MANE Select | ENSP00000252242.4:n.1439+211_1439+212del | |
| ENST00000252242.8:c.1439+211_1439+212del | ENSP00000252242.4:n.1439+211_1439+212del | |
| ENST00000548409.5:c.561+211_561+212del | ||
| ENST00000549511.5:n.646+211_646+212del | ||
| ENST00000552629.5:n.1748_1749del | ||
| NM_000424.3:c.1439+211_1439+212del | NP_000415.2:n.1439+211_1439+212del | |
| NM_000424.4:c.1439+211_1439+212del MANE Select | NP_000415.2:n.1439+211_1439+212del |