Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082679_3082711del , CM000682.2:g.3082679_3082711del | GRCh38 |
| NC_000020.10:g.3063325_3063357del , CM000682.1:g.3063325_3063357del | GRCh37 |
| NC_000020.9:g.3011325_3011357del | NCBI36 |
| NG_008663.1:g.7023_7055del , LRG_715:g.7023_7055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.423_455del MANE Select | ENSP00000369647.3:p.Leu142_Ala152del | |
| NM_000490.4:c.423_455del , LRG_715t1:c.423_455del | NP_000481.2:p.Leu142_Ala152del | |
| XM_011529267.1:c.423_455del | XP_011527569.1:p.Leu142_Ala152del | |
| XM_011529267.2:c.423_455del | XP_011527569.1:p.Leu142_Ala152del | |
| NM_000490.5:c.423_455del MANE Select | NP_000481.2:p.Leu142_Ala152del |