Linked Data
ClinVar Variation Id:
1076502
ClinVar RCV Id:
RCV001390446
dbSNP Id:
rs2134631619
gnomAD v4:
11-119026025-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026027del , CM000673.2:g.119026027del | GRCh38 |
| NC_000011.9:g.118896737del , CM000673.1:g.118896737del | GRCh37 |
| NC_000011.8:g.118401947del | NCBI36 |
| NG_013331.1:g.9880del , LRG_187:g.9880del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1069del | ||
| ENST00000697845.1:n.1849del | ||
| ENST00000697846.1:n.1069del | ||
| ENST00000697847.1:n.1202-269del | ||
| ENST00000697848.1:n.1155del | ||
| ENST00000697849.1:n.2964del | ||
| ENST00000697850.1:n.1155del | ||
| ENST00000697851.1:n.2763del | ||
| ENST00000638186.1:n.1229del | ||
| ENST00000638360.1:n.1061del | ||
| ENST00000638925.1:n.1194del | ||
| ENST00000650539.1:n.1331del | ||
| ENST00000330775.9:c.925del | ENSP00000476242.2:p.Ala309LeufsTer3 | |
| ENST00000357590.9:c.925del | ENSP00000476176.2:p.Ala309LeufsTer3 | |
| ENST00000524428.5:n.1161del | ||
| ENST00000525039.5:n.1349del | ||
| ENST00000525102.5:n.1683del | ||
| ENST00000525372.5:n.1023del | ||
| ENST00000526275.5:n.1707del | ||
| ENST00000527992.5:n.1153del | ||
| ENST00000529510.5:n.613del | ||
| ENST00000530407.5:n.1075del | ||
| ENST00000532085.1:n.4306del | ||
| ENST00000538950.5:c.706del | ENSP00000475991.2:p.Ala236LeufsTer3 | |
| ENST00000545985.5:c.925del | ENSP00000475241.2:p.Ala309LeufsTer3 | |
| NM_001164277.1:c.925del , LRG_187t1:c.925del | NP_001157749.1:p.Ala309LeufsTer3 | |
| NM_001164278.1:c.925del | NP_001157750.1:p.Ala309LeufsTer3 | |
| NM_001164279.1:c.706del | NP_001157751.1:p.Ala236LeufsTer3 | |
| NM_001164280.1:c.925del | NP_001157752.1:p.Ala309LeufsTer3 | |
| NM_001467.5:c.925del | NP_001458.1:p.Ala309LeufsTer3 | |
| NM_001164278.2:c.925del | NP_001157750.1:p.Ala309LeufsTer3 | |
| NM_001164279.2:c.706del | NP_001157751.1:p.Ala236LeufsTer3 | |
| NM_001164280.2:c.925del | NP_001157752.1:p.Ala309LeufsTer3 | |
| NM_001467.6:c.925del | NP_001458.1:p.Ala309LeufsTer3 | |
| NM_001164277.2:c.925del MANE Select | NP_001157749.1:p.Ala309LeufsTer3 |