Linked Data
ClinVar Variation Id:
128042
ClinVar RCV Id:
RCV000005932
RCV000005934
RCV000115980
RCV000123265
RCV000210137
RCV000212447
RCV000413386
RCV000488416
RCV000500025
RCV000515188
RCV000587467
RCV000591014
RCV000615743
RCV000735378
RCV001270933
RCV001290296
RCV001354431
RCV001391208
RCV001572630
RCV001770086
RCV002225332
RCV002285140
RCV002291559
RCV002463641
dbSNP Id:
rs555607708
ExAC:
22:29091856 AG / A
gnomAD v2:
22-29091856-AG-A
gnomAD v3:
22-28695868-AG-A
gnomAD v4:
22-28695868-AG-A
COSMIC:
COSM5967258
PubMed:
PMID:10617473
PMID:11053450
PMID:11719428
PMID:11967536
PMID:12533788
PMID:15122511
PMID:15492928
PMID:15520402
PMID:17085682
PMID:18172190
PMID:19338683
PMID:19805189
PMID:21779515
PMID:21807500
PMID:21956126
PMID:22058428
PMID:22419737
PMID:22811390
PMID:22994785
PMID:23469205
PMID:24884479
PMID:25431674
PMID:25583358
PMID:26084796
PMID:26641009
PMID:26681312
PMID:26822237
PMID:26845104
PMID:26884562
PMID:27083775
PMID:27153395
PMID:27223485
PMID:27269948
PMID:27433846
PMID:27751358
PMID:28514723
PMID:28734145
PMID:28874143
CIViC:
CA288251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695869del , CM000684.2:g.28695869del | GRCh38 |
| NC_000022.10:g.29091857del , CM000684.1:g.29091857del | GRCh37 |
| NC_000022.9:g.27421857del | NCBI36 |
| NG_008150.1:g.50966del | |
| NG_008150.2:g.50998del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711048.1:c.1009-627del | ENSP00000518557.1:n.1009-627del | |
| ENST00000402731.6:c.899del | ENSP00000384835.2:p.Thr300MetfsTer15 | |
| ENST00000404276.6:c.1100del MANE Select | ENSP00000385747.1:p.Thr367MetfsTer15 | |
| ENST00000425190.7:c.437del | ENSP00000390244.2:p.Thr146MetfsTer15 | |
| ENST00000464581.6:c.440del | ENSP00000483777.2:p.Thr147MetfsTer15 | |
| ENST00000648295.1:n.652del | ||
| ENST00000649563.1:c.437del | ENSP00000496928.1:p.Thr146MetfsTer15 | |
| ENST00000650281.1:c.1100del | ENSP00000497000.1:p.Thr367MetfsTer15 | |
| ENST00000328354.10:c.1100del | ENSP00000329178.6:p.Thr367MetfsTer15 | |
| ENST00000348295.7:c.1013del | ENSP00000329012.5:p.Thr338MetfsTer15 | |
| ENST00000382580.6:c.1229del | ENSP00000372023.2:p.Thr410MetfsTer15 | |
| ENST00000402731.5:c.1013del | ENSP00000384835.1:p.Thr338MetfsTer15 | |
| ENST00000403642.5:c.827del | ENSP00000384919.1:p.Thr276MetfsTer15 | |
| ENST00000404276.5:c.1100del | ENSP00000385747.1:p.Thr367MetfsTer15 | |
| ENST00000405598.5:c.1100del | ENSP00000386087.1:p.Thr367MetfsTer15 | |
| ENST00000416671.5:c.*590del | ENSP00000402225.1:n.*590del | |
| ENST00000417588.5:c.1009del | ENSP00000412901.1:n.1009del | |
| ENST00000433728.5:c.1038del | ENSP00000404400.1:n.1038del | |
| ENST00000434810.5:c.331del | ||
| ENST00000448511.5:c.990del | ENSP00000404567.1:n.990del | |
| ENST00000456369.5:c.263+3969del | ||
| NM_001005735.1:c.1229del | NP_001005735.1:p.Thr410MetfsTer15 | |
| NM_001257387.1:c.437del | NP_001244316.1:p.Thr146MetfsTer15 | |
| NM_007194.3:c.1100del | NP_009125.1:p.Thr367MetfsTer15 | |
| NM_145862.2:c.1013del | NP_665861.1:p.Thr338MetfsTer15 | |
| XM_006724114.2:c.620del | XP_006724177.1:p.Thr207MetfsTer15 | |
| XM_006724116.2:c.557del | XP_006724179.2:p.Thr186MetfsTer15 | |
| XM_011529839.1:c.1259del | XP_011528141.1:p.Thr420MetfsTer15 | |
| XM_011529840.1:c.1172del | XP_011528142.1:p.Thr391MetfsTer15 | |
| XM_011529841.1:c.1028del | XP_011528143.1:p.Thr343MetfsTer15 | |
| XM_011529842.1:c.929del | XP_011528144.1:p.Thr310MetfsTer15 | |
| XM_011529843.1:c.899del | XP_011528145.1:p.Thr300MetfsTer15 | |
| XM_011529845.1:c.437del | XP_011528147.1:p.Thr146MetfsTer15 | |
| XR_937805.1:n.1259del | ||
| XR_937806.1:n.1167del | ||
| NM_001349956.1:c.899del | NP_001336885.1:p.Thr300MetfsTer15 | |
| NM_007194.4:c.1100del MANE Select | NP_009125.1:p.Thr367MetfsTer15 | |
| XM_006724114.3:c.653del | XP_006724177.2:p.Thr218MetfsTer15 | |
| XM_011529839.2:c.1259del | XP_011528141.1:p.Thr420MetfsTer15 | |
| XM_011529840.3:c.1172del | XP_011528142.1:p.Thr391MetfsTer15 | |
| XM_011529842.2:c.929del | XP_011528144.1:p.Thr310MetfsTer15 | |
| XM_011529845.2:c.437del | XP_011528147.1:p.Thr146MetfsTer15 | |
| XM_017028560.1:c.1223del | XP_016884049.1:p.Thr408MetfsTer15 | |
| XM_017028561.2:c.437del | XP_016884050.1:p.Thr146MetfsTer15 | |
| XM_024452148.1:c.1130del | XP_024307916.1:p.Thr377MetfsTer15 | |
| XM_024452149.1:c.1043del | XP_024307917.1:p.Thr348MetfsTer15 | |
| XR_937805.2:n.1270del | ||
| XR_937806.2:n.1183del | ||
| NM_001005735.2:c.1229del | NP_001005735.1:p.Thr410MetfsTer15 | |
| NM_001257387.2:c.437del | NP_001244316.1:p.Thr146MetfsTer15 | |
| NM_001349956.2:c.899del | NP_001336885.1:p.Thr300MetfsTer15 |