Linked Data
ClinVar Variation Id:
1583563
ClinVar RCV Id:
RCV002112015
dbSNP Id:
rs782700135
ExAC:
X:53409307 AG / A
gnomAD v2:
X-53409307-AG-A
gnomAD v4:
X-53382386-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382390del , CM000685.2:g.53382390del | GRCh38 |
| NC_000023.10:g.53409311del , CM000685.1:g.53409311del | GRCh37 |
| NC_000023.9:g.53426036del | NCBI36 |
| NG_006988.2:g.45284del , LRG_773:g.45284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3286-4del MANE Select | ENSP00000323421.3:n.3286-4del | |
| ENST00000674590.1:c.2518-4del | ENSP00000502626.1:n.2518-4del | |
| ENST00000675504.1:c.3220-4del | ENSP00000502524.1:n.3220-4del | |
| ENST00000322213.8:c.3286-4del | ENSP00000323421.3:n.3286-4del | |
| ENST00000375340.10:c.3220-4del | ENSP00000364489.7:n.3220-4del | |
| ENST00000469129.1:n.142-4del | ||
| ENST00000470241.2:c.576-4del | ||
| NM_001281463.1:c.3220-4del , LRG_773t1:c.3220-4del | NP_001268392.1:n.3220-4del | |
| NM_006306.3:c.3286-4del , LRG_773t2:c.3286-4del | NP_006297.2:n.3286-4del | |
| NM_006306.4:c.3286-4del MANE Select | NP_006297.2:n.3286-4del |