Linked Data
ClinVar Variation Id:
2968501
ClinVar RCV Id:
RCV003821627
dbSNP Id:
rs1430712125
gnomAD v3:
2-219146721-GT-G
gnomAD v4:
2-219146721-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219146723del , CM000664.2:g.219146723del | GRCh38 |
| NC_000002.11:g.220011445del , CM000664.1:g.220011445del | GRCh37 |
| NC_000002.10:g.219719689del | NCBI36 |
| NG_007880.1:g.19144del , LRG_90:g.19144del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.546del | ENSP00000394896.2:p.Glu182AspfsTer13 | |
| ENST00000457600.3:c.546del | ENSP00000407201.2:p.Glu182AspfsTer13 | |
| ENST00000698174.1:c.546del | ENSP00000513594.1:p.Glu182AspfsTer13 | |
| ENST00000698175.1:c.*293del | ENSP00000513595.1:n.*293del | |
| ENST00000698176.1:n.618del | ||
| ENST00000698202.1:c.546del | ENSP00000513605.1:p.Glu182AspfsTer13 | |
| ENST00000698203.1:c.546del | ENSP00000513606.1:p.Glu182AspfsTer13 | |
| ENST00000356853.10:c.546del MANE Select | ENSP00000349313.5:p.Glu182AspfsTer13 | |
| ENST00000318673.6:c.*1668del | ENSP00000320919.3:n.*1668del | |
| ENST00000356853.9:c.546del | ENSP00000349313.5:p.Glu182AspfsTer13 | |
| ENST00000409720.5:c.546del | ENSP00000387290.1:p.Glu182AspfsTer13 | |
| ENST00000418099.5:c.546del | ENSP00000408966.1:p.Glu182AspfsTer13 | |
| ENST00000426304.5:c.306del | ENSP00000394896.1:p.Glu102AspfsTer13 | |
| ENST00000450447.1:c.*233del | ENSP00000408421.1:n.*233del | |
| ENST00000457600.2:c.546del | ENSP00000407201.1:p.Glu182AspfsTer13 | |
| ENST00000498327.5:n.2734del | ||
| NM_024782.2:c.546del , LRG_90t1:c.546del | NP_079058.1:p.Glu182AspfsTer13 | |
| NM_001377498.1:c.546del | NP_001364427.1:p.Glu182AspfsTer13 | |
| NM_001377499.1:c.546del | NP_001364428.1:p.Glu182AspfsTer13 | |
| NM_024782.3:c.546del MANE Select | NP_079058.1:p.Glu182AspfsTer13 | |
| NR_165304.1:n.642del |