Linked Data
ClinVar Variation Id:
467017
ClinVar RCV Id:
RCV003960332
dbSNP Id:
rs771419718
ExAC:
2:179549626 AAT / A
gnomAD v2:
2-179549626-AAT-A
gnomAD v3:
2-178684899-AAT-A
gnomAD v4:
2-178684899-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178684903_178684904del , CM000664.2:g.178684903_178684904del | GRCh38 |
| NC_000002.11:g.179549630_179549631del , CM000664.1:g.179549630_179549631del | GRCh37 |
| NC_000002.10:g.179257875_179257876del | NCBI36 |
| NG_011618.3:g.150902_150903del , LRG_391:g.150902_150903del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.28822+5_28822+6del | ENSP00000343764.6:n.28822+5_28822+6del | |
| ENST00000342175.11:c.13859-42584_13859-42583del | ENSP00000340554.6:n.13859-42584_13859-425... | |
| ENST00000359218.10:c.13658-42584_13658-42583del | ENSP00000352154.5:n.13658-42584_13658-425... | |
| ENST00000342175.10:c.13859-42584_13859-42583del | ENSP00000340554.6:n.13859-42584_13859-425... | |
| ENST00000342992.10:c.28822+5_28822+6del | ENSP00000343764.6:n.28822+5_28822+6del | |
| ENST00000359218.9:c.13658-42584_13658-42583del | ENSP00000352154.5:n.13658-42584_13658-425... | |
| ENST00000414766.5:c.1730-1998_1730-1997del | ENSP00000401501.1:n.1730-1998_1730-1997de... | |
| ENST00000460472.6:c.13283-42584_13283-42583del | ENSP00000434586.1:n.13283-42584_13283-425... | |
| ENST00000589042.5:c.32554+5_32554+6del MANE Select | ENSP00000467141.1:n.32554+5_32554+6del | |
| ENST00000591111.5:c.31603+5_31603+6del | ENSP00000465570.1:n.31603+5_31603+6del | |
| ENST00000615779.4:c.31603+5_31603+6del | ENSP00000483597.1:n.31603+5_31603+6del | |
| NM_001256850.1:c.31603+5_31603+6del | NP_001243779.1:n.31603+5_31603+6del | |
| NM_001267550.2:c.32554+5_32554+6del MANE Select | NP_001254479.2:n.32554+5_32554+6del | |
| NM_003319.4:c.13283-42584_13283-42583del | NP_003310.4:n.13283-42584_13283-42583del | |
| NM_133378.4:c.28822+5_28822+6del | NP_596869.4:n.28822+5_28822+6del | |
| NM_133432.3:c.13658-42584_13658-42583del | NP_597676.3:n.13658-42584_13658-42583del | |
| NM_133437.4:c.13859-42584_13859-42583del | NP_597681.4:n.13859-42584_13859-42583del | |
| XM_011511729.1:c.31651+5_31651+6del | XP_011510031.1:n.31651+5_31651+6del | |
| XM_011511730.1:c.13469-42584_13469-42583del | XP_011510032.1:n.13469-42584_13469-42583d... | |
| XM_011511731.1:c.13328-42584_13328-42583del | XP_011510033.1:n.13328-42584_13328-42583d... | |
| XM_017004819.1:c.31606+5_31606+6del | XP_016860308.1:n.31606+5_31606+6del | |
| XM_017004820.1:c.28825+5_28825+6del | XP_016860309.1:n.28825+5_28825+6del | |
| XM_017004821.1:c.28822+5_28822+6del | XP_016860310.1:n.28822+5_28822+6del | |
| XM_017004822.1:c.31148-1998_31148-1997del | XP_016860311.1:n.31148-1998_31148-1997del... | |
| XM_017004823.1:c.13424-42584_13424-42583del | XP_016860312.1:n.13424-42584_13424-42583d... | |
| XM_024453094.1:c.31606+5_31606+6del | XP_024308862.1:n.31606+5_31606+6del | |
| XM_024453095.1:c.31606+5_31606+6del | XP_024308863.1:n.31606+5_31606+6del | |
| XM_024453096.1:c.31606+5_31606+6del | XP_024308864.1:n.31606+5_31606+6del | |
| XM_024453097.1:c.30899-1610_30899-1609del | XP_024308865.1:n.30899-1610_30899-1609del... | |
| XM_024453098.1:c.30899-1998_30899-1997del | XP_024308866.1:n.30899-1998_30899-1997del... | |
| XM_024453099.1:c.13424-42584_13424-42583del | XP_024308867.1:n.13424-42584_13424-42583d... |