Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532108_129532112delinsCCTGT , CM000665.2:g.129532108_129532112delinsCCTGT | GRCh38 |
| NC_000003.11:g.129250951_129250955delinsCCTGT , CM000665.1:g.129250951_129250955delinsCCTGT | GRCh37 |
| NC_000003.10:g.130733641_130733645delinsCCTGT | NCBI36 |
| NG_009115.1:g.8470_8474delinsCCTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.531-143_531-139delinsCCTGT MANE Select | ENSP00000296271.3:n.531-143_531-139delinsCCTGT | |
| ENST00000296271.3:c.531-143_531-139delinsCCTGT | ENSP00000296271.3:n.531-143_531-139delinsCCTGT | |
| NM_000539.3:c.531-143_531-139delinsCCTGT MANE Select | NP_000530.1:n.531-143_531-139delinsCCTGT |