Linked Data
dbSNP Id:
rs1954750066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051671_53051678del , CM000675.2:g.53051671_53051678del | GRCh38 |
| NC_000013.10:g.53625806_53625813del , CM000675.1:g.53625806_53625813del | GRCh37 |
| NC_000013.9:g.52523807_52523814del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219022.3:c.*900_*907del MANE Select | ENSP00000219022.2:n.*900_*907del | |
| ENST00000219022.2:c.*900_*907del | ENSP00000219022.2:n.*900_*907del | |
| NM_006418.4:c.*900_*907del | NP_006409.3:n.*900_*907del | |
| NM_006418.5:c.*900_*907del MANE Select | NP_006409.3:n.*900_*907del |