Linked Data
ClinVar Variation Id:
185176
dbSNP Id:
rs774175654
ExAC:
22:29085175 TC / T
gnomAD v2:
22-29085175-TC-T
gnomAD v3:
22-28689187-TC-T
gnomAD v4:
22-28689187-TC-T
PubMed:
PMID:12909615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689188del , CM000684.2:g.28689188del | GRCh38 |
| NC_000022.10:g.29085176del , CM000684.1:g.29085176del | GRCh37 |
| NC_000022.9:g.27415176del | NCBI36 |
| NG_008150.1:g.57647del | |
| NG_008150.2:g.57679del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.*224del | ENSP00000518557.1:n.*224del | |
| ENST00000402731.6:c.1288del | ENSP00000384835.2:p.Asp430IlefsTer16 | |
| ENST00000404276.6:c.1489del MANE Select | ENSP00000385747.1:p.Asp497IlefsTer16 | |
| ENST00000425190.7:c.826del | ENSP00000390244.2:p.Asp276IlefsTer16 | |
| ENST00000464581.6:c.829del | ENSP00000483777.2:p.Asp277IlefsTer16 | |
| ENST00000648295.1:n.1041del | ||
| ENST00000649563.1:c.826del | ENSP00000496928.1:p.Asp276IlefsTer16 | |
| ENST00000650281.1:c.1489del | ENSP00000497000.1:p.Asp497IlefsTer16 | |
| ENST00000328354.10:c.1489del | ENSP00000329178.6:p.Asp497IlefsTer16 | |
| ENST00000348295.7:c.1402del | ENSP00000329012.5:p.Asp468IlefsTer16 | |
| ENST00000382580.6:c.1618del | ENSP00000372023.2:p.Asp540IlefsTer16 | |
| ENST00000402731.5:c.1402del | ENSP00000384835.1:p.Asp468IlefsTer16 | |
| ENST00000403642.5:c.1216del | ENSP00000384919.1:p.Asp406IlefsTer16 | |
| ENST00000404276.5:c.1489del | ENSP00000385747.1:p.Asp497IlefsTer16 | |
| ENST00000405598.5:c.1489del | ENSP00000386087.1:p.Asp497IlefsTer16 | |
| ENST00000416671.5:c.*979del | ENSP00000402225.1:n.*979del | |
| ENST00000417588.5:c.1398del | ENSP00000412901.1:n.1398del | |
| ENST00000433728.5:c.1427del | ENSP00000404400.1:n.1427del | |
| ENST00000434810.5:c.687del | ||
| ENST00000448511.5:c.1379del | ENSP00000404567.1:n.1379del | |
| ENST00000456369.5:c.291del | ||
| ENST00000472807.1:n.223del | ||
| NM_001005735.1:c.1618del | NP_001005735.1:p.Asp540IlefsTer16 | |
| NM_001257387.1:c.826del | NP_001244316.1:p.Asp276IlefsTer16 | |
| NM_007194.3:c.1489del | NP_009125.1:p.Asp497IlefsTer16 | |
| NM_145862.2:c.1402del | NP_665861.1:p.Asp468IlefsTer16 | |
| XM_006724114.2:c.1009del | XP_006724177.1:p.Asp337IlefsTer16 | |
| XM_006724116.2:c.946del | XP_006724179.2:p.Asp316IlefsTer16 | |
| XM_011529839.1:c.1648del | XP_011528141.1:p.Asp550IlefsTer16 | |
| XM_011529840.1:c.1561del | XP_011528142.1:p.Asp521IlefsTer16 | |
| XM_011529841.1:c.1417del | XP_011528143.1:p.Asp473IlefsTer16 | |
| XM_011529842.1:c.1318del | XP_011528144.1:p.Asp440IlefsTer16 | |
| XM_011529843.1:c.1288del | XP_011528145.1:p.Asp430IlefsTer16 | |
| XM_011529845.1:c.826del | XP_011528147.1:p.Asp276IlefsTer16 | |
| XR_937805.1:n.1648del | ||
| NM_001349956.1:c.1288del | NP_001336885.1:p.Asp430IlefsTer16 | |
| NM_007194.4:c.1489del MANE Select | NP_009125.1:p.Asp497IlefsTer16 | |
| XM_006724114.3:c.1042del | XP_006724177.2:p.Asp348IlefsTer16 | |
| XM_011529839.2:c.1648del | XP_011528141.1:p.Asp550IlefsTer16 | |
| XM_011529840.3:c.1561del | XP_011528142.1:p.Asp521IlefsTer16 | |
| XM_011529842.2:c.1318del | XP_011528144.1:p.Asp440IlefsTer16 | |
| XM_011529845.2:c.826del | XP_011528147.1:p.Asp276IlefsTer16 | |
| XM_017028560.1:c.1612del | XP_016884049.1:p.Asp538IlefsTer16 | |
| XM_017028561.2:c.826del | XP_016884050.1:p.Asp276IlefsTer16 | |
| XM_024452148.1:c.1519del | XP_024307916.1:p.Asp507IlefsTer16 | |
| XM_024452149.1:c.1432del | XP_024307917.1:p.Asp478IlefsTer16 | |
| XR_937805.2:n.1659del | ||
| NM_001005735.2:c.1618del | NP_001005735.1:p.Asp540IlefsTer16 | |
| NM_001257387.2:c.826del | NP_001244316.1:p.Asp276IlefsTer16 | |
| NM_001349956.2:c.1288del | NP_001336885.1:p.Asp430IlefsTer16 |