Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23637798_23637802del , CM000682.2:g.23637798_23637802del | GRCh38 |
| NC_000020.10:g.23618435_23618439del , CM000682.1:g.23618435_23618439del | GRCh37 |
| NC_000020.9:g.23566435_23566439del | NCBI36 |
| NG_012887.2:g.5136_5140del | |
| NG_012887.3:g.5136_5140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.61_65del MANE Select | ENSP00000366124.3:p.Val21ProfsTer? | |
| ENST00000376925.7:c.61_65del | ENSP00000366124.3:p.Val21ProfsTer? | |
| ENST00000398409.1:c.61_65del | ENSP00000381446.1:p.Val21ProfsTer? | |
| ENST00000398411.5:c.61_65del | ENSP00000381448.1:p.Val21ProfsTer? | |
| NM_000099.3:c.61_65del | NP_000090.1:p.Val21ProfsTer? | |
| NM_001288614.1:c.61_65del | NP_001275543.1:p.Val21ProfsTer? | |
| NM_000099.4:c.61_65del MANE Select | NP_000090.1:p.Val21ProfsTer? | |
| NM_001288614.2:c.61_65del | NP_001275543.1:p.Val21ProfsTer? |