Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082662_3082703del , CM000682.2:g.3082662_3082703del | GRCh38 |
| NC_000020.10:g.3063308_3063349del , CM000682.1:g.3063308_3063349del | GRCh37 |
| NC_000020.9:g.3011308_3011349del | NCBI36 |
| NG_008663.1:g.7026_7067del , LRG_715:g.7026_7067del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.426_467del MANE Select | ENSP00000369647.3:p.Leu142_Pro155del | |
| NM_000490.4:c.426_467del , LRG_715t1:c.426_467del | NP_000481.2:p.Leu142_Pro155del | |
| XM_011529267.1:c.426_467del | XP_011527569.1:p.Leu142_Pro155del | |
| XM_011529267.2:c.426_467del | XP_011527569.1:p.Leu142_Pro155del | |
| NM_000490.5:c.426_467del MANE Select | NP_000481.2:p.Leu142_Pro155del |