Linked Data
ClinVar Variation Id:
478916
ClinVar RCV Id:
RCV000560921
dbSNP Id:
rs1557054859
MyVariant Identifiers:
chrX:g.153740685_153740687del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740685_153740687del , CM000685.2:g.153740685_153740687del | GRCh38 |
| NC_000023.10:g.153006139_153006141del , CM000685.1:g.153006139_153006141del | GRCh37 |
| NC_000023.9:g.152659333_152659335del | NCBI36 |
| NG_009022.2:g.20818_20820del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1746_1748del MANE Select | ENSP00000218104.3:p.Val583del | |
| ENST00000218104.5:c.1746_1748del | ENSP00000218104.3:p.Val583del | |
| NM_000033.3:c.1746_1748del | NP_000024.2:p.Val583del | |
| XR_938507.1:n.2218_2220del | ||
| XR_938507.2:n.2218_2220del | ||
| NM_000033.4:c.1746_1748del MANE Select | NP_000024.2:p.Val583del |