Linked Data
dbSNP Id:
rs1922482382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172434_116172436del , CM000685.2:g.116172434_116172436del | GRCh38 |
| NC_000023.10:g.115303687_115303689del , CM000685.1:g.115303687_115303689del | GRCh37 |
| NC_000023.9:g.115217715_115217717del | NCBI36 |
| NG_016326.1:g.6730_6732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.154_156del MANE Select | ENSP00000360973.4:p.Tyr52del | |
| ENST00000680409.1:n.622_624del | ||
| ENST00000681852.1:c.154_156del | ENSP00000505750.1:p.Tyr52del | |
| ENST00000371906.4:c.154_156del | ENSP00000360973.4:p.Tyr52del | |
| NM_000686.4:c.154_156del | NP_000677.2:p.Tyr52del | |
| XM_011537533.1:c.154_156del | XP_011535835.1:p.Tyr52del | |
| NM_000686.5:c.154_156del MANE Select | NP_000677.2:p.Tyr52del | |
| NM_001385624.1:c.154_156del | NP_001372553.1:p.Tyr52del |