Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897162del , CM000681.2:g.15897162del | GRCh38 |
| NC_000019.9:g.16007972del , CM000681.1:g.16007972del | GRCh37 |
| NC_000019.8:g.15868972del | NCBI36 |
| NG_007971.2:g.5913del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.198+252del MANE Select | ENSP00000221700.3:n.198+252del | |
| ENST00000011989.11:c.198+252del | ENSP00000011989.8:n.198+252del | |
| ENST00000221700.10:c.198+252del | ENSP00000221700.3:n.198+252del | |
| ENST00000392846.7:n.49+864del | ||
| ENST00000586927.2:c.198+252del | ENSP00000465514.1:n.198+252del | |
| ENST00000587671.2:c.198+252del | ENSP00000467443.2:n.198+252del | |
| ENST00000608168.1:n.251+252del | ||
| NM_001082.4:c.198+252del | NP_001073.3:n.198+252del | |
| NM_001082.5:c.198+252del MANE Select | NP_001073.3:n.198+252del |