Linked Data
ClinVar Variation Id:
289420
ClinVar RCV Id:
RCV000085686
dbSNP Id:
rs61750159
gnomAD v4:
1-94021310-CG-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021314del , CM000663.2:g.94021314del | GRCh38 |
| NC_000001.10:g.94486870del , CM000663.1:g.94486870del | GRCh37 |
| NC_000001.9:g.94259458del | NCBI36 |
| NG_009073.1:g.104839del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4947del MANE Select | ENSP00000359245.3:p.Glu1650ArgfsTer12 | |
| ENST00000370225.3:c.4947del | ENSP00000359245.3:p.Glu1650ArgfsTer12 | |
| ENST00000460514.1:n.441del | ||
| ENST00000470771.1:n.57del | ||
| ENST00000536513.5:c.1323del | ENSP00000439707.2:p.Glu442ArgfsTer12 | |
| NM_000350.2:c.4947del | NP_000341.2:p.Glu1650ArgfsTer12 | |
| NM_000350.3:c.4947del MANE Select | NP_000341.2:p.Glu1650ArgfsTer12 |