Linked Data
ClinVar Variation Id:
141133
dbSNP Id:
rs587781519
gnomAD v2:
22-29083920-TG-T
gnomAD v3:
22-28687932-TG-T
gnomAD v4:
22-28687932-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28687934del , CM000684.2:g.28687934del | GRCh38 |
| NC_000022.10:g.29083922del , CM000684.1:g.29083922del | GRCh37 |
| NC_000022.9:g.27413922del | NCBI36 |
| NG_008150.1:g.58902del | |
| NG_008150.2:g.58934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*331del | ENSP00000518557.1:n.*331del | |
| ENST00000402731.6:c.1395del | ENSP00000384835.2:p.Thr466GlnfsTer? | |
| ENST00000404276.6:c.1596del MANE Select | ENSP00000385747.1:p.Thr533GlnfsTer? | |
| ENST00000425190.7:c.933del | ENSP00000390244.2:p.Thr312GlnfsTer? | |
| ENST00000464581.6:c.936del | ENSP00000483777.2:p.Thr313GlnfsTer? | |
| ENST00000648295.1:n.1148del | ||
| ENST00000649563.1:c.933del | ENSP00000496928.1:p.Thr312GlnfsTer? | |
| ENST00000650281.1:c.1596del | ENSP00000497000.1:p.Thr533GlnfsTer? | |
| ENST00000328354.10:c.1596del | ENSP00000329178.6:p.Thr533GlnfsTer? | |
| ENST00000348295.7:c.1509del | ENSP00000329012.5:p.Thr504GlnfsTer? | |
| ENST00000382580.6:c.1725del | ENSP00000372023.2:p.Thr576GlnfsTer? | |
| ENST00000402731.5:c.1509del | ENSP00000384835.1:p.Thr504GlnfsTer? | |
| ENST00000403642.5:c.1323del | ENSP00000384919.1:p.Thr442GlnfsTer? | |
| ENST00000404276.5:c.1596del | ENSP00000385747.1:p.Thr533GlnfsTer? | |
| ENST00000405598.5:c.1596del | ENSP00000386087.1:p.Thr533GlnfsTer? | |
| ENST00000416671.5:c.*1086del | ENSP00000402225.1:n.*1086del | |
| ENST00000417588.5:c.1505del | ENSP00000412901.1:n.1505del | |
| ENST00000433728.5:c.1534del | ENSP00000404400.1:n.1534del | |
| ENST00000434810.5:c.794del | ||
| ENST00000448511.5:c.1486del | ENSP00000404567.1:n.1486del | |
| ENST00000456369.5:c.398del | ||
| ENST00000472807.1:n.330del | ||
| NM_001005735.1:c.1725del | NP_001005735.1:p.Thr576GlnfsTer? | |
| NM_001257387.1:c.933del | NP_001244316.1:p.Thr312GlnfsTer? | |
| NM_007194.3:c.1596del | NP_009125.1:p.Thr533GlnfsTer? | |
| NM_145862.2:c.1509del | NP_665861.1:p.Thr504GlnfsTer? | |
| XM_006724114.2:c.1116del | XP_006724177.1:p.Thr373GlnfsTer? | |
| XM_006724116.2:c.1053del | XP_006724179.2:p.Thr352GlnfsTer? | |
| XM_011529839.1:c.1755del | XP_011528141.1:p.Thr586GlnfsTer? | |
| XM_011529840.1:c.1668del | XP_011528142.1:p.Thr557GlnfsTer? | |
| XM_011529841.1:c.1524del | XP_011528143.1:p.Thr509GlnfsTer? | |
| XM_011529842.1:c.1425del | XP_011528144.1:p.Thr476GlnfsTer? | |
| XM_011529843.1:c.1395del | XP_011528145.1:p.Thr466GlnfsTer? | |
| XM_011529845.1:c.933del | XP_011528147.1:p.Thr312GlnfsTer? | |
| XR_937805.1:n.1755del | ||
| NM_001349956.1:c.1395del | NP_001336885.1:p.Thr466GlnfsTer? | |
| NM_007194.4:c.1596del MANE Select | NP_009125.1:p.Thr533GlnfsTer? | |
| XM_006724114.3:c.1149del | XP_006724177.2:p.Thr384GlnfsTer? | |
| XM_011529839.2:c.1755del | XP_011528141.1:p.Thr586GlnfsTer? | |
| XM_011529840.3:c.1668del | XP_011528142.1:p.Thr557GlnfsTer? | |
| XM_011529842.2:c.1425del | XP_011528144.1:p.Thr476GlnfsTer? | |
| XM_011529845.2:c.933del | XP_011528147.1:p.Thr312GlnfsTer? | |
| XM_017028560.1:c.1719del | XP_016884049.1:p.Thr574GlnfsTer? | |
| XM_017028561.2:c.933del | XP_016884050.1:p.Thr312GlnfsTer? | |
| XM_024452148.1:c.1626del | XP_024307916.1:p.Thr543GlnfsTer? | |
| XM_024452149.1:c.1539del | XP_024307917.1:p.Thr514GlnfsTer? | |
| XR_937805.2:n.1766del | ||
| NM_001005735.2:c.1725del | NP_001005735.1:p.Thr576GlnfsTer? | |
| NM_001257387.2:c.933del | NP_001244316.1:p.Thr312GlnfsTer? | |
| NM_001349956.2:c.1395del | NP_001336885.1:p.Thr466GlnfsTer? |