Linked Data
ClinVar Variation Id:
406748
ClinVar RCV Id:
RCV002379433
dbSNP Id:
rs1060501287
gnomAD v4:
2-214769301-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214769303del , CM000664.2:g.214769303del | GRCh38 |
| NC_000002.11:g.215634027del , CM000664.1:g.215634027del | GRCh37 |
| NC_000002.10:g.215342272del | NCBI36 |
| NG_012047.2:g.45403del | |
| NG_012047.3:g.45410del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.1325del MANE Select | ENSP00000260947.4:p.Pro442LeufsTer? | |
| ENST00000421162.2:c.216-16747del | ENSP00000392245.2:n.216-16747del | |
| ENST00000613192.2:c.159-38794del | ENSP00000483275.2:n.159-38794del | |
| ENST00000613374.5:c.159-16747del | ENSP00000484464.1:n.159-16747del | |
| ENST00000613706.5:c.917del | ENSP00000484976.2:p.Pro306LeufsTer? | |
| ENST00000617164.5:c.1268del | ENSP00000480470.1:p.Pro423LeufsTer? | |
| ENST00000619009.5:c.364+22995del | ENSP00000482293.1:n.364+22995del | |
| ENST00000650978.1:c.2700del | ||
| ENST00000260947.8:c.1325del | ENSP00000260947.4:p.Pro442LeufsTer? | |
| ENST00000421162.1:c.216-16747del | ENSP00000392245.1:n.216-16747del | |
| ENST00000455743.5:c.*945del | ENSP00000412186.1:n.*945del | |
| ENST00000613192.1:c.74-38794del | ENSP00000483275.1:n.74-38794del | |
| ENST00000613374.4:c.159-16747del | ENSP00000484464.1:n.159-16747del | |
| ENST00000613706.4:c.216-16747del | ENSP00000484976.1:n.216-16747del | |
| ENST00000617164.4:c.1268del | ENSP00000480470.1:p.Pro423LeufsTer? | |
| ENST00000619009.4:c.364+22995del | ENSP00000482293.1:n.364+22995del | |
| ENST00000620057.4:c.375del | ENSP00000481988.1:p.Phe126SerfsTer? | |
| NM_000465.3:c.1325del | NP_000456.2:p.Pro442LeufsTer? | |
| NM_001282543.1:c.1268del | NP_001269472.1:p.Pro423LeufsTer? | |
| NM_001282545.1:c.216-16747del | NP_001269474.1:n.216-16747del | |
| NM_001282548.1:c.159-16747del | NP_001269477.1:n.159-16747del | |
| NM_001282549.1:c.364+22995del | NP_001269478.1:n.364+22995del | |
| NR_104212.1:n.1318del | ||
| NR_104215.1:n.1261del | ||
| NR_104216.1:n.517del | ||
| XM_011511567.1:c.1271del | XP_011509869.1:p.Pro424LeufsTer? | |
| XM_011511568.1:c.1325del | XP_011509870.1:p.Pro442LeufsTer? | |
| XM_017004613.1:c.1424del | XP_016860102.1:p.Pro475LeufsTer? | |
| XM_017004614.1:c.1424del | XP_016860103.1:p.Pro475LeufsTer? | |
| XR_002959322.1:n.1515del | ||
| NM_000465.4:c.1325del MANE Select | NP_000456.2:p.Pro442LeufsTer? | |
| NM_001282543.2:c.1268del | NP_001269472.1:p.Pro423LeufsTer? | |
| NM_001282545.2:c.216-16747del | NP_001269474.1:n.216-16747del | |
| NM_001282548.2:c.159-16747del | NP_001269477.1:n.159-16747del | |
| NM_001282549.2:c.364+22995del | NP_001269478.1:n.364+22995del | |
| NR_104212.2:n.1290del | ||
| NR_104215.2:n.1233del | ||
| NR_104216.2:n.489del |