Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129533650_129533653del , CM000665.2:g.129533650_129533653del | GRCh38 |
| NC_000003.11:g.129252493_129252496del , CM000665.1:g.129252493_129252496del | GRCh37 |
| NC_000003.10:g.130735183_130735186del | NCBI36 |
| NG_009115.1:g.10012_10015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.979_982del MANE Select | ENSP00000296271.3:p.Pro327TrpfsTer? | |
| ENST00000296271.3:c.979_982del | ENSP00000296271.3:p.Pro327TrpfsTer? | |
| NM_000539.3:c.979_982del MANE Select | NP_000530.1:p.Pro327TrpfsTer? |