Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082603_3082660del , CM000682.2:g.3082603_3082660del | GRCh38 |
| NC_000020.10:g.3063249_3063306del , CM000682.1:g.3063249_3063306del | GRCh37 |
| NC_000020.9:g.3011249_3011306del | NCBI36 |
| NG_008663.1:g.7070_7127del , LRG_715:g.7070_7127del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.470_*32del MANE Select | ENSP00000369647.3:n.[c.470_*32del;Glu157AlafsTer?] | |
| NM_000490.4:c.470_*32del , LRG_715t1:c.470_*32del | NP_000481.2:n.[c.470_*32del;Glu157AlafsTer?] | |
| XM_011529267.1:c.470_*32del | XP_011527569.1:n.[c.470_*32del;Glu157AlafsTer?] | |
| NM_000490.5:c.470_*32del MANE Select | NP_000481.2:n.[c.470_*32del;Glu157AlafsTer?] |