Linked Data
dbSNP Id:
rs1670681602
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881737_160881739del , CM000663.2:g.160881737_160881739del | GRCh38 |
| NC_000001.10:g.160851527_160851529del , CM000663.1:g.160851527_160851529del | GRCh37 |
| NC_000001.9:g.159118151_159118153del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.405+220_405+222del MANE Select | ENSP00000323587.3:n.405+220_405+222del | |
| ENST00000326245.3:c.405+220_405+222del | ENSP00000323587.3:n.405+220_405+222del | |
| ENST00000464077.1:n.339+220_339+222del | ||
| NM_017625.2:c.405+220_405+222del | NP_060095.2:n.405+220_405+222del | |
| NM_017625.3:c.405+220_405+222del MANE Select | NP_060095.2:n.405+220_405+222del |