Linked Data
ClinVar Variation Id:
1456090
ClinVar RCV Id:
RCV001950972
dbSNP Id:
rs2133313582
gnomAD v4:
11-36593397-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593401_36593402del , CM000673.2:g.36593401_36593402del | GRCh38 |
| NC_000011.9:g.36614951_36614952del , CM000673.1:g.36614951_36614952del | GRCh37 |
| NC_000011.8:g.36571527_36571528del | NCBI36 |
| NG_007573.1:g.9838_9839del , LRG_99:g.9838_9839del | |
| NG_033154.1:g.3909_3910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.770_771del | ENSP00000436895.2:p.Ser257CysfsTer10 | |
| ENST00000529083.2:c.770_771del | ENSP00000436327.2:p.Ser257CysfsTer10 | |
| ENST00000532616.2:c.770_771del | ENSP00000432174.2:p.Ser257CysfsTer10 | |
| ENST00000311485.8:c.770_771del MANE Select | ENSP00000308620.4:p.Ser257CysfsTer10 | |
| ENST00000311485.7:c.770_771del | ENSP00000308620.3:p.Ser257CysfsTer10 | |
| ENST00000524423.1:n.131+4703_131+4704del | ||
| ENST00000618712.4:c.770_771del | ENSP00000478672.1:p.Ser257CysfsTer10 | |
| NM_000536.3:c.770_771del | NP_000527.2:p.Ser257CysfsTer10 | |
| NM_001243785.1:c.770_771del | NP_001230714.1:p.Ser257CysfsTer10 | |
| NM_001243786.1:c.770_771del | NP_001230715.1:p.Ser257CysfsTer10 | |
| NM_000536.4:c.770_771del MANE Select | NP_000527.2:p.Ser257CysfsTer10 | |
| NM_001243785.2:c.770_771del | NP_001230714.1:p.Ser257CysfsTer10 | |
| NM_001243786.2:c.770_771del | NP_001230715.1:p.Ser257CysfsTer10 |