Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221413_30221428del , CM000679.2:g.30221413_30221428del | GRCh38 |
| NC_000017.10:g.28548431_28548446del , CM000679.1:g.28548431_28548446del | GRCh37 |
| NC_000017.9:g.25572557_25572572del | NCBI36 |
| NG_011747.2:g.19524_19539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+203_343+218del MANE Select | ENSP00000498537.1:n.343+203_343+218del | |
| ENST00000261707.7:c.343+203_343+218del | ENSP00000261707.3:n.343+203_343+218del | |
| ENST00000394821.2:c.343+203_343+218del | ENSP00000378298.2:n.343+203_343+218del | |
| ENST00000401766.6:c.343+203_343+218del | ENSP00000385822.2:n.343+203_343+218del | |
| NM_001045.5:c.343+203_343+218del | NP_001036.1:n.343+203_343+218del | |
| NM_001045.6:c.343+203_343+218del MANE Select | NP_001036.1:n.343+203_343+218del |