Linked Data
dbSNP Id:
rs1907536744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586573del , CM000679.2:g.41586573del | GRCh38 |
| NC_000017.10:g.39742825del , CM000679.1:g.39742825del | GRCh37 |
| NC_000017.9:g.36996351del | NCBI36 |
| NG_008624.1:g.5323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.262del MANE Select | ENSP00000167586.6:p.Tyr88MetfsTer30 | |
| ENST00000167586.6:c.262del | ENSP00000167586.6:p.Tyr88MetfsTer30 | |
| NM_000526.4:c.262del | NP_000517.2:p.Tyr88MetfsTer30 | |
| NM_000526.5:c.262del MANE Select | NP_000517.3:p.Tyr88MetfsTer30 |