Linked Data
ClinVar Variation Id:
209110
ClinVar RCV Id:
RCV000191048
dbSNP Id:
rs606231298
PubMed:
PMID:24218363
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153797780del , CM000685.2:g.153797780del | GRCh38 |
| NC_000023.10:g.153063235del , CM000685.1:g.153063235del | GRCh37 |
| NC_000023.9:g.152716429del | NCBI36 |
| NG_041795.1:g.8606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.317del MANE Select | ENSP00000359103.3:p.Phe106SerfsTer? | |
| ENST00000320857.7:c.317del | ENSP00000317331.3:p.Phe106SerfsTer? | |
| ENST00000370085.3:c.242del | ENSP00000359102.3:p.Phe81SerfsTer? | |
| ENST00000370086.7:c.317del | ENSP00000359103.3:p.Phe106SerfsTer? | |
| ENST00000370087.5:c.317del | ENSP00000359104.1:p.Phe106SerfsTer? | |
| ENST00000447375.1:n.157del | ||
| ENST00000460616.5:n.2025del | ||
| ENST00000471880.5:n.520del | ||
| ENST00000482902.5:n.2144del | ||
| ENST00000485612.5:n.432del | ||
| ENST00000486204.5:n.389del | ||
| NM_001204526.1:c.350del | NP_001191455.1:p.Phe117SerfsTer? | |
| NM_001204527.1:c.341del | NP_001191456.1:p.Phe114SerfsTer? | |
| NM_006280.2:c.317del | NP_006271.1:p.Phe106SerfsTer? | |
| NR_037927.1:n.662del | ||
| XM_011531186.1:c.317del | XP_011529488.1:p.Phe106SerfsTer? | |
| XM_011531187.1:c.317del | XP_011529489.1:p.Phe106SerfsTer? | |
| XM_017029756.1:c.128del | XP_016885245.1:p.Phe43SerfsTer? | |
| XM_017029757.1:c.128del | XP_016885246.1:p.Phe43SerfsTer? | |
| XM_024452428.1:c.128del | XP_024308196.1:p.Phe43SerfsTer? | |
| NM_001204527.2:c.341del | NP_001191456.1:p.Phe114SerfsTer? | |
| NM_006280.3:c.317del MANE Select | NP_006271.1:p.Phe106SerfsTer? |