Linked Data
ClinVar Variation Id:
393703
ClinVar RCV Id:
RCV000445647
dbSNP Id:
rs35352549
PubMed:
PMID:20301599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227063del , CM000673.2:g.5227063del | GRCh38 |
| NC_000011.9:g.5248293del , CM000673.1:g.5248293del | GRCh37 |
| NC_000011.8:g.5204869del | NCBI36 |
| NG_000007.3:g.70554del | |
| NG_059281.1:g.5010del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-41del | ENSP00000494175.1:n.-41del | |
| ENST00000335295.4:c.-41del MANE Select | ENSP00000333994.3:n.-41del | |
| ENST00000380315.2:c.-18-23del | ENSP00000369671.2:n.-18-23del | |
| ENST00000485743.1:n.11del | ||
| ENST00000633227.1:c.-41del | ENSP00000488004.1:n.-41del | |
| NM_000518.4:c.-41del | NP_000509.1:n.-41del | |
| NM_000518.5:c.-41del MANE Select | NP_000509.1:n.-41del |