Linked Data
dbSNP Id:
rs2102735884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432316_229432317del , CM000663.2:g.229432316_229432317del | GRCh38 |
| NC_000001.10:g.229568063_229568064del , CM000663.1:g.229568063_229568064del | GRCh37 |
| NC_000001.9:g.227634686_227634687del | NCBI36 |
| NG_006672.1:g.6780_6781del , LRG_429:g.6780_6781del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.569_570del | ENSP00000355644.4:p.Tyr190SerfsTer7 | |
| ENST00000684723.1:c.434_435del | ENSP00000508084.1:p.Tyr145SerfsTer7 | |
| ENST00000366683.3:c.479+90_479+91del | ENSP00000355644.3:n.479+90_479+91del | |
| ENST00000366684.7:c.569_570del MANE Select | ENSP00000355645.3:p.Tyr190SerfsTer7 | |
| NM_001100.3:c.569_570del , LRG_429t1:c.569_570del | NP_001091.1:p.Tyr190SerfsTer7 | |
| NM_001100.4:c.569_570del MANE Select | NP_001091.1:p.Tyr190SerfsTer7 |