Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432469_229432524del , CM000663.2:g.229432469_229432524del | GRCh38 |
| NC_000001.10:g.229568216_229568271del , CM000663.1:g.229568216_229568271del | GRCh37 |
| NC_000001.9:g.227634839_227634894del | NCBI36 |
| NG_006672.1:g.6580_6635del , LRG_429:g.6580_6635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.454+39_455-31del | ENSP00000355644.4:n.454+39_455-31del | |
| ENST00000684723.1:c.319+39_320-31del | ENSP00000508084.1:n.319+39_320-31del | |
| ENST00000366683.3:c.454+39_455-31del | ENSP00000355644.3:n.454+39_455-31del | |
| ENST00000366684.7:c.454+39_455-31del MANE Select | ENSP00000355645.3:n.454+39_455-31del | |
| NM_001100.3:c.454+39_455-31del , LRG_429t1:c.454+39_455-31del | NP_001091.1:n.454+39_455-31del | |
| NM_001100.4:c.454+39_455-31del MANE Select | NP_001091.1:n.454+39_455-31del |