Linked Data
ClinVar Variation Id:
15479
ClinVar RCV Id:
RCV000016737
dbSNP Id:
rs63750837
PubMed:
PMID:2158827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226597_5226599del , CM000673.2:g.5226597_5226599del | GRCh38 |
| NC_000011.9:g.5247827_5247829del , CM000673.1:g.5247827_5247829del | GRCh37 |
| NC_000011.8:g.5204403_5204405del | NCBI36 |
| NG_000007.3:g.71017_71019del | |
| NG_059281.1:g.5473_5475del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.293_295del | ENSP00000494175.1:p.His98_Val99delinsLeu | |
| ENST00000335295.4:c.293_295del MANE Select | ENSP00000333994.3:p.His98_Val99delinsLeu | |
| ENST00000475226.1:n.225_227del | ||
| ENST00000485743.1:n.344_346del | ||
| ENST00000633227.1:c.*109_*111del | ENSP00000488004.1:n.*109_*111del | |
| NM_000518.4:c.293_295del | NP_000509.1:p.His98_Val99delinsLeu | |
| NM_000518.5:c.293_295del MANE Select | NP_000509.1:p.His98_Val99delinsLeu |