Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6096801del , CM000682.2:g.6096801del | GRCh38 |
| NC_000020.10:g.6077448del , CM000682.1:g.6077448del | GRCh37 |
| NC_000020.9:g.6025448del | NCBI36 |
| NG_016213.1:g.31762del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.1089+119del MANE Select | NP_060141.3:n.1089+119del |
| ENST00000217289.9:c.1089+119del MANE Select | ENSP00000217289.4:n.1089+119del |
| NM_017671.4:c.1089+119del | NP_060141.3:n.1089+119del |
| ENST00000217289.8:c.1089+119del | ENSP00000217289.4:n.1089+119del |
| ENST00000536936.1:c.318+119del | ENSP00000441063.1:n.318+119del |
| ENST00000699095.1:c.1089+119del | ENSP00000514127.1:n.1089+119del |
| ENST00000699096.1:n.1551+119del | |
| ENST00000699097.1:n.378del | |
| XM_024451935.1:c.1089+119del | XP_024307703.1:n.1089+119del |