Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323673_73323674del , CM000677.2:g.73323673_73323674del | GRCh38 |
| NC_000015.9:g.73616014_73616015del , CM000677.1:g.73616014_73616015del | GRCh37 |
| NC_000015.8:g.71403067_71403068del | NCBI36 |
| NG_009063.1:g.50592_50593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2420_2421del MANE Select | ENSP00000261917.3:p.Arg807ProfsTer? | |
| ENST00000261917.3:c.2420_2421del | ENSP00000261917.3:p.Arg807ProfsTer? | |
| NM_005477.2:c.2420_2421del | NP_005468.1:p.Arg807ProfsTer? | |
| XM_011521148.1:c.1202_1203del | XP_011519450.1:p.Arg401ProfsTer? | |
| XM_011521148.2:c.1202_1203del | XP_011519450.1:p.Arg401ProfsTer? | |
| NM_005477.3:c.2420_2421del MANE Select | NP_005468.1:p.Arg807ProfsTer? |