Linked Data
dbSNP Id:
rs281864904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225635_5225645del , CM000673.2:g.5225635_5225645del | GRCh38 |
| NC_000011.9:g.5246865_5246875del , CM000673.1:g.5246865_5246875del | GRCh37 |
| NC_000011.8:g.5203441_5203451del | NCBI36 |
| NG_000007.3:g.71971_71981del | |
| NG_059281.1:g.6427_6437del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.397_407del | ENSP00000494175.1:p.Lys133TrpfsTer4 | |
| ENST00000335295.4:c.397_407del MANE Select | ENSP00000333994.3:p.Lys133TrpfsTer4 | |
| ENST00000633227.1:c.*213_*223del | ENSP00000488004.1:n.*213_*223del | |
| NM_000518.4:c.397_407del | NP_000509.1:p.Lys133TrpfsTer4 | |
| NM_000518.5:c.397_407del MANE Select | NP_000509.1:p.Lys133TrpfsTer4 |