Linked Data
dbSNP Id:
rs2052475029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56595066_56595067del , CM000679.2:g.56595066_56595067del | GRCh38 |
| NC_000017.10:g.54672427_54672428del , CM000679.1:g.54672427_54672428del | GRCh37 |
| NC_000017.9:g.52027426_52027427del | NCBI36 |
| NG_011958.1:g.6368_6369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*144_*145del MANE Select | ENSP00000328181.4:n.*144_*145del | |
| ENST00000332822.4:c.*144_*145del | ENSP00000328181.4:n.*144_*145del | |
| NM_005450.4:c.*144_*145del | NP_005441.1:n.*144_*145del | |
| NM_005450.6:c.*144_*145del MANE Select | NP_005441.1:n.*144_*145del |