Linked Data
gnomAD v4:
1-229432459-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432460_229432461del , CM000663.2:g.229432460_229432461del | GRCh38 |
| NC_000001.10:g.229568207_229568208del , CM000663.1:g.229568207_229568208del | GRCh37 |
| NC_000001.9:g.227634830_227634831del | NCBI36 |
| NG_006672.1:g.6636_6637del , LRG_429:g.6636_6637del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.455-30_455-29del | ENSP00000355644.4:n.455-30_455-29del | |
| ENST00000684723.1:c.320-30_320-29del | ENSP00000508084.1:n.320-30_320-29del | |
| ENST00000366683.3:c.455-30_455-29del | ENSP00000355644.3:n.455-30_455-29del | |
| ENST00000366684.7:c.455-30_455-29del MANE Select | ENSP00000355645.3:n.455-30_455-29del | |
| NM_001100.3:c.455-30_455-29del , LRG_429t1:c.455-30_455-29del | NP_001091.1:n.455-30_455-29del | |
| NM_001100.4:c.455-30_455-29del MANE Select | NP_001091.1:n.455-30_455-29del |