Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529207_129529208del , CM000665.2:g.129529207_129529208del | GRCh38 |
| NC_000003.11:g.129248050_129248051del , CM000665.1:g.129248050_129248051del | GRCh37 |
| NC_000003.10:g.130730740_130730741del | NCBI36 |
| NG_009115.1:g.5569_5570del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+113_361+114del MANE Select | ENSP00000296271.3:n.361+113_361+114del | |
| ENST00000296271.3:c.361+113_361+114del | ENSP00000296271.3:n.361+113_361+114del | |
| NM_000539.3:c.361+113_361+114del MANE Select | NP_000530.1:n.361+113_361+114del |