Linked Data
ClinVar Variation Id:
167742
dbSNP Id:
rs35401252
ExAC:
9:35683240 TG / T
gnomAD v2:
9-35683240-TG-T
gnomAD v3:
9-35683243-TG-T
gnomAD v4:
9-35683243-TG-T
COSMIC:
COSM5512578
MyVariant Identifiers:
chr9:g.35683241del (hg19)
chr9:g.35683241delG (hg19)
chr9:g.35683244del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35683251del , CM000671.2:g.35683251del | GRCh38 |
| NC_000009.11:g.35683248del , CM000671.1:g.35683248del | GRCh37 |
| NC_000009.10:g.35673248del | NCBI36 |
| NG_011620.1:g.11814del , LRG_680:g.11814del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378292.9:c.772+1002del | ENSP00000367542.3:n.772+1002del | |
| ENST00000643485.1:n.608-3del | ||
| ENST00000644325.1:c.205-340del | ||
| ENST00000645482.3:c.773-3del MANE Select | ENSP00000496494.2:n.773-3del | |
| ENST00000647435.1:c.773-3del | ENSP00000495440.1:n.773-3del | |
| ENST00000329305.6:c.772+1002del | ENSP00000367541.1:n.772+1002del | |
| ENST00000360958.6:c.773-3del | ENSP00000354219.2:n.773-3del | |
| ENST00000378292.7:c.772+1002del | ENSP00000367542.3:n.772+1002del | |
| ENST00000378300.9:c.773-340del | ENSP00000367550.5:n.773-340del | |
| NM_001301226.1:c.772+1002del | NP_001288155.1:n.772+1002del | |
| NM_001301227.1:c.773-3del | NP_001288156.1:n.773-3del | |
| NM_003289.3:c.773-3del , LRG_680t2:c.773-3del | NP_003280.2:n.773-3del | |
| NM_213674.1:c.772+1002del , LRG_680t1:c.772+1002del | NP_998839.1:n.772+1002del | |
| XR_929320.1:n.1212+1002del | ||
| XR_929321.1:n.1213-3del | ||
| XR_929322.1:n.881-3del | ||
| XR_929323.1:n.881-3del | ||
| XR_929324.1:n.959+1002del | ||
| XR_929325.1:n.957-3del | ||
| XM_017015087.2:c.*193-3del | XP_016870576.1:n.*193-3del | |
| XM_017015088.2:c.*192+1002del | XP_016870577.1:n.*192+1002del | |
| XM_017015090.2:c.773-3del | XP_016870579.1:n.773-3del | |
| XM_017015091.2:c.773-3del | XP_016870580.1:n.773-3del | |
| XM_017015092.2:c.*207-3del | XP_016870581.1:n.*207-3del | |
| XM_017015093.2:c.*206+1002del | XP_016870582.1:n.*206+1002del | |
| NM_001301226.2:c.772+1002del | NP_001288155.1:n.772+1002del | |
| NM_003289.4:c.773-3del MANE Select | NP_003280.2:n.773-3del | |
| NM_001301227.2:c.773-3del | NP_001288156.1:n.773-3del |