Linked Data
ClinVar Variation Id:
11306
ClinVar RCV Id:
RCV000012058
dbSNP Id:
rs387906495
PubMed:
PMID:8040304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740155del , CM000685.2:g.153740155del | GRCh38 |
| NC_000023.10:g.153005609del , CM000685.1:g.153005609del | GRCh37 |
| NC_000023.9:g.152658803del | NCBI36 |
| NG_009022.2:g.20288del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.1552del MANE Select | ENSP00000218104.3:p.Arg518GlyfsTer? | |
| ENST00000218104.5:c.1552del | ENSP00000218104.3:p.Arg518GlyfsTer? | |
| ENST00000443684.2:n.555del | ||
| NM_000033.3:c.1552del | NP_000024.2:p.Arg518GlyfsTer? | |
| XR_938507.1:n.2024del | ||
| XR_938507.2:n.2024del | ||
| NM_000033.4:c.1552del MANE Select | NP_000024.2:p.Arg518GlyfsTer? |