Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863132dup , CM000666.2:g.4863132dup | GRCh38 |
| NC_000004.11:g.4864859dup , CM000666.1:g.4864859dup | GRCh37 |
| NC_000004.10:g.4915760dup | NCBI36 |
| NG_008121.1:g.8468dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.901dup MANE Select | ENSP00000372170.4:p.His301ProfsTer? | |
| ENST00000382723.4:c.901dup | ENSP00000372170.4:p.His301ProfsTer? | |
| NM_002448.3:c.901dup MANE Select | NP_002439.2:p.His301ProfsTer? |