Linked Data
dbSNP Id:
rs2133609438
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5249934del , CM000673.2:g.5249934del | GRCh38 |
| NC_000011.9:g.5271164del , CM000673.1:g.5271164del | GRCh37 |
| NC_000011.8:g.5227740del | NCBI36 |
| NG_000007.3:g.47682del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.316-1447del | ENSP00000495346.1:n.316-1447del | |
| ENST00000647543.1:c.379-1447del | ENSP00000496470.1:n.379-1447del | |
| ENST00000620888.4:c.316-1447del | ENSP00000479637.1:n.316-1447del |