Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082676_3082717del , CM000682.2:g.3082676_3082717del | GRCh38 |
| NC_000020.10:g.3063322_3063363del , CM000682.1:g.3063322_3063363del | GRCh37 |
| NC_000020.9:g.3011322_3011363del | NCBI36 |
| NG_008663.1:g.7012_7053del , LRG_715:g.7012_7053del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.412_453del MANE Select | ENSP00000369647.3:p.Pro138_Gly151del | |
| NM_000490.4:c.412_453del , LRG_715t1:c.412_453del | NP_000481.2:p.Pro138_Gly151del | |
| XM_011529267.1:c.412_453del | XP_011527569.1:p.Pro138_Gly151del | |
| XM_011529267.2:c.412_453del | XP_011527569.1:p.Pro138_Gly151del | |
| NM_000490.5:c.412_453del MANE Select | NP_000481.2:p.Pro138_Gly151del |