Linked Data
ClinVar Variation Id:
31232
ClinVar RCV Id:
RCV000024231
dbSNP Id:
rs1060499527
PubMed:
PMID:20176027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95523655del , CM000667.2:g.95523655del | GRCh38 |
| NC_000005.9:g.94859359del , CM000667.1:g.94859359del | GRCh37 |
| NC_000005.8:g.94885115del | NCBI36 |
| NG_023414.1:g.36352del , LRG_173:g.36352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506007.2:n.1922+1del | ||
| ENST00000513232.2:c.*347+1del | ||
| ENST00000698450.1:n.1016+1del | ||
| ENST00000698451.1:n.1052+1del | ||
| ENST00000698452.1:n.2123+1del | ||
| ENST00000698453.1:c.1632+1del | ||
| ENST00000698454.1:c.1623+1del | ||
| ENST00000698455.1:c.*1608+1del | ||
| ENST00000698456.1:c.*490+1del | ||
| ENST00000698457.1:c.1632+1del | ||
| ENST00000698458.1:c.1668+1del | ||
| ENST00000698459.1:c.1632+1del | ||
| ENST00000698460.1:c.1632+1del | ||
| ENST00000698461.1:n.1922+1del | ||
| ENST00000698462.1:n.1922+1del | ||
| ENST00000698468.1:n.2123+1del | ||
| ENST00000698469.1:c.*979+1del | ||
| ENST00000698470.1:c.1632+1del | ||
| ENST00000698471.1:n.1922+1del | ||
| ENST00000698472.1:c.*347+1del | ||
| ENST00000698473.1:n.1922+1del | ||
| ENST00000698474.1:n.1922+1del | ||
| ENST00000698475.1:n.1922+1del | ||
| ENST00000698476.1:c.1632+1del | ||
| ENST00000698477.1:c.1632+1del | ||
| ENST00000698478.1:n.1922+1del | ||
| ENST00000698479.1:c.1632+1del | ||
| ENST00000698480.1:c.1632+1del | ||
| ENST00000698481.1:c.1632+1del | ||
| ENST00000698482.1:n.1922+1del | ||
| ENST00000698483.1:n.1922+1del | ||
| ENST00000698484.1:c.1632+1del | ||
| ENST00000698485.1:c.1632+1del | ||
| ENST00000698486.1:n.1922+1del | ||
| ENST00000698487.1:c.1632+1del | ||
| ENST00000698488.1:c.1632+1del | ||
| ENST00000698489.1:n.5707+1del | ||
| ENST00000698490.1:c.1632+1del | ||
| ENST00000698492.1:c.*347+1del | ||
| ENST00000698493.1:n.1922+1del | ||
| ENST00000698494.1:c.1632+1del | ||
| ENST00000358746.7:c.1632+1del | ||
| ENST00000649566.1:c.1632+1del | ||
| ENST00000358746.6:c.1632+1del | ||
| ENST00000505578.5:c.320-328del | ENSP00000423141.1:n.320-328del | |
| ENST00000513232.1:c.449+1del | ||
| ENST00000514952.5:c.1488+1del | ||
| NM_014639.3:c.1632+1del , LRG_173t1:c.1632+1del | ||
| XR_948312.1:n.1901+1del | ||
| XR_001742370.2:n.1904+1del | ||
| NM_014639.4:c.1632+1del |