Linked Data
ClinVar Variation Id:
15474
ClinVar RCV Id:
RCV000016732
gnomAD v3:
11-5225481-GT-G
gnomAD v4:
11-5225481-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225487del , CM000673.2:g.5225487del | GRCh38 |
| NC_000011.9:g.5246717del , CM000673.1:g.5246717del | GRCh37 |
| NC_000011.8:g.5203293del | NCBI36 |
| NG_000007.3:g.72134del | |
| NG_059281.1:g.6590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.*116del | ENSP00000494175.1:n.*116del | |
| ENST00000335295.4:c.*116del MANE Select | ENSP00000333994.3:n.*116del | |
| ENST00000633227.1:c.*376del | ENSP00000488004.1:n.*376del | |
| NM_000518.4:c.*116del | NP_000509.1:n.*116del | |
| NM_000518.5:c.*116del MANE Select | NP_000509.1:n.*116del |