Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40687374_40687377del , CM000682.2:g.40687374_40687377del | GRCh38 |
| NC_000020.10:g.39316014_39316017del , CM000682.1:g.39316014_39316017del | GRCh37 |
| NC_000020.9:g.38749428_38749431del | NCBI36 |
| NG_023378.1:g.6865_6868del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005461.5:c.*507_*510del MANE Select | NP_005452.2:n.*507_*510del |
| ENST00000373313.3:c.*507_*510del MANE Select | ENSP00000362410.2:n.*507_*510del |
| NM_005461.4:c.*507_*510del | NP_005452.2:n.*507_*510del |
| ENST00000373313.2:c.*507_*510del | ENSP00000362410.2:n.*507_*510del |