Linked Data
ClinVar Variation Id:
11303
ClinVar RCV Id:
RCV003483433
dbSNP Id:
rs387906494
gnomAD v4:
X-153737177-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737178_153737179del , CM000685.2:g.153737178_153737179del | GRCh38 |
| NC_000023.10:g.153002632_153002633del , CM000685.1:g.153002632_153002633del | GRCh37 |
| NC_000023.9:g.152655826_152655827del | NCBI36 |
| NG_009022.2:g.17311_17312del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.1415_1416del MANE Select | ENSP00000218104.3:p.Gln472ArgfsTer? | |
| ENST00000218104.5:c.1415_1416del | ENSP00000218104.3:p.Gln472ArgfsTer? | |
| ENST00000443684.2:n.418_419del | ||
| NM_000033.3:c.1415_1416del | NP_000024.2:p.Gln472ArgfsTer? | |
| XR_938507.1:n.1887_1888del | ||
| XR_938507.2:n.1887_1888del | ||
| NM_000033.4:c.1415_1416del MANE Select | NP_000024.2:p.Gln472ArgfsTer? |