Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528701_129528711dup , CM000665.2:g.129528701_129528711dup | GRCh38 |
| NC_000003.11:g.129247544_129247554dup , CM000665.1:g.129247544_129247554dup | GRCh37 |
| NC_000003.10:g.130730234_130730244dup | NCBI36 |
| NG_009115.1:g.5063_5073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.-33_-23dup MANE Select | ENSP00000296271.3:n.-33_-23dup | |
| ENST00000296271.3:c.-33_-23dup | ENSP00000296271.3:n.-33_-23dup | |
| NM_000539.3:c.-33_-23dup MANE Select | NP_000530.1:n.-33_-23dup |