Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73640882_73640887del , CM000664.2:g.73640882_73640887del | GRCh38 |
| NC_000002.11:g.73868009_73868014del , CM000664.1:g.73868009_73868014del | GRCh37 |
| NC_000002.10:g.73721517_73721522del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.*60_*65del MANE Select | ENSP00000272425.3:n.*60_*65del | |
| ENST00000272425.3:c.*60_*65del | ENSP00000272425.3:n.*60_*65del | |
| NM_003960.3:c.*60_*65del | NP_003951.3:n.*60_*65del | |
| NM_003960.4:c.*60_*65del MANE Select | NP_003951.3:n.*60_*65del |