Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189036532del , CM000664.2:g.189036532del | GRCh38 |
| NC_000002.11:g.189901258del , CM000664.1:g.189901258del | GRCh37 |
| NC_000002.10:g.189609503del | NCBI36 |
| NG_011799.1:g.148354del | |
| NG_011799.2:g.148354del | |
| NG_011799.3:g.193776del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4113+90del MANE Select | NP_000384.2:n.4113+90del |
| ENST00000374866.9:c.4113+90del MANE Select | ENSP00000364000.3:n.4113+90del |
| NM_000393.3:c.4113+90del | NP_000384.2:n.4113+90del |
| NM_000393.4:c.4113+90del | NP_000384.2:n.4113+90del |
| ENST00000374866.7:c.4113+90del | ENSP00000364000.3:n.4113+90del |
| ENST00000618828.1:c.2952+90del | ENSP00000482184.1:n.2952+90del |
| XM_011510573.1:c.3975+90del | XP_011508875.1:n.3975+90del |
| XM_011510573.3:c.3975+90del | XP_011508875.1:n.3975+90del |