Linked Data
ClinVar Variation Id:
1073792
ClinVar RCV Id:
RCV001386896
dbSNP Id:
rs1654043546
gnomAD v4:
1-150804145-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804149del , CM000663.2:g.150804149del | GRCh38 |
| NC_000001.10:g.150776625del , CM000663.1:g.150776625del | GRCh37 |
| NC_000001.9:g.149043249del | NCBI36 |
| NG_011848.1:g.9191del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.493del MANE Select | ENSP00000271651.3:p.Gln165ArgfsTer3 | |
| ENST00000443913.2:c.670del | ENSP00000405083.2:p.Gln224ArgfsTer3 | |
| ENST00000480670.2:n.3562del | ||
| ENST00000676680.1:c.493del | ENSP00000503270.1:p.Gln165ArgfsTer3 | |
| ENST00000676716.1:c.370del | ENSP00000504737.1:p.Gln124ArgfsTer3 | |
| ENST00000676751.1:c.493del | ENSP00000502964.1:p.Gln165ArgfsTer3 | |
| ENST00000676824.1:c.493del | ENSP00000504176.1:p.Gln165ArgfsTer3 | |
| ENST00000676966.1:c.493del | ENSP00000503723.1:p.Gln165ArgfsTer3 | |
| ENST00000676970.1:c.493del | ENSP00000503832.1:p.Gln165ArgfsTer3 | |
| ENST00000677330.1:n.2319del | ||
| ENST00000677611.1:n.345del | ||
| ENST00000677887.1:c.535del | ENSP00000503876.1:p.Gln179ArgfsTer3 | |
| ENST00000678275.1:c.*385del | ENSP00000504796.1:n.*385del | |
| ENST00000678337.1:c.529del | ENSP00000504759.1:p.Gln177ArgfsTer3 | |
| ENST00000678725.1:n.1470del | ||
| ENST00000679090.1:n.1078del | ||
| ENST00000679148.1:n.3455del | ||
| ENST00000679171.1:n.2854del | ||
| ENST00000679260.1:c.399+1715del | ENSP00000504534.1:n.399+1715del | |
| ENST00000271651.7:c.493del | ENSP00000271651.3:p.Gln165ArgfsTer3 | |
| ENST00000443913.1:c.670del | ENSP00000405083.1:p.Gln224ArgfsTer3 | |
| ENST00000480670.1:n.333del | ||
| NM_000396.3:c.493del | NP_000387.1:p.Gln165ArgfsTer3 | |
| NM_000396.4:c.493del MANE Select | NP_000387.1:p.Gln165ArgfsTer3 |