Linked Data
ClinVar Variation Id:
4501
ClinVar RCV Id:
RCV002512770
dbSNP Id:
rs387906318
gnomAD v3:
5-33963914-GAGA-G
gnomAD v4:
5-33963914-GAGA-G
MyVariant Identifiers:
chr5:g.33964021_33964023del (hg19)
chr5:g.33964020_33964022del (hg19)
chr5:g.33963916_33963918del (hg38)
chr5:g.33963915_33963917del (hg38)
PubMed:
PMID:14722913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963922_33963924del , CM000667.2:g.33963922_33963924del | GRCh38 |
| NC_000005.9:g.33964027_33964029del , CM000667.1:g.33964027_33964029del | GRCh37 |
| NC_000005.8:g.33999784_33999786del | NCBI36 |
| NG_011691.2:g.25759_25761del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.662_664del MANE Select | ENSP00000296589.4:p.Phe221del | |
| ENST00000296589.8:c.662_664del | ENSP00000296589.4:p.Phe221del | |
| ENST00000382102.7:c.662_664del | ENSP00000371534.3:p.Phe221del | |
| ENST00000505056.1:n.464_466del | ||
| ENST00000509381.1:c.563-9413_563-9411del | ENSP00000421100.1:n.563-9413_563-9411del | |
| ENST00000510600.1:c.137_139del | ENSP00000424010.1:p.Phe46del | |
| NM_001012509.3:c.662_664del | NP_001012527.1:p.Phe221del | |
| NM_001297417.2:c.563-9413_563-9411del | NP_001284346.2:n.563-9413_563-9411del | |
| NM_016180.4:c.662_664del | NP_057264.3:p.Phe221del | |
| XM_011514051.1:c.260_262del | XP_011512353.1:p.Phe87del | |
| XM_011514052.1:c.662_664del | XP_011512354.1:p.Phe221del | |
| XR_925620.1:n.1479_1481del | ||
| NM_016180.5:c.662_664del MANE Select | NP_057264.4:p.Phe221del | |
| NM_001012509.4:c.662_664del | NP_001012527.2:p.Phe221del | |
| NM_001297417.3:c.563-9413_563-9411del | NP_001284346.2:n.563-9413_563-9411del | |
| NM_001297417.4:c.563-9413_563-9411del | NP_001284346.2:n.563-9413_563-9411del |