Linked Data
ClinVar Variation Id:
579824
ClinVar RCV Id:
RCV000703201
dbSNP Id:
rs752830087
ExAC:
8:30924567 TG / T
gnomAD v2:
8-30924567-TG-T
gnomAD v4:
8-31067051-TG-T
MyVariant Identifiers:
chr8:g.30924569del (hg19)
chr8:g.30924568del (hg19)
chr8:g.31067053del (hg38)
chr8:g.31067052del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31067053del , CM000670.2:g.31067053del | GRCh38 |
| NC_000008.10:g.30924569del , CM000670.1:g.30924569del | GRCh37 |
| NC_000008.9:g.31044111del | NCBI36 |
| NG_008870.1:g.38792del , LRG_524:g.38792del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.525del MANE Select | ENSP00000298139.5:p.Trp175Ter | |
| ENST00000650667.1:c.*139del | ENSP00000498593.1:n.*139del | |
| ENST00000298139.5:c.525del | ENSP00000298139.5:p.Trp175Ter | |
| NM_000553.4:c.525del , LRG_524t1:c.525del | NP_000544.2:p.Trp175Ter | |
| XM_011544639.1:c.525del | XP_011542941.1:p.Trp175Ter | |
| XR_949470.1:n.798del | ||
| XR_949471.1:n.798del | ||
| XR_949472.1:n.798del | ||
| NM_000553.5:c.525del | NP_000544.2:p.Trp175Ter | |
| XM_011544639.3:c.525del | XP_011542941.1:p.Trp175Ter | |
| XM_024447265.1:c.315del | XP_024303033.1:p.Trp105Ter | |
| XR_949470.3:n.826del | ||
| XR_949471.3:n.826del | ||
| XR_949472.3:n.826del | ||
| NM_000553.6:c.525del MANE Select | NP_000544.2:p.Trp175Ter |