Linked Data
ClinVar Variation Id:
3021533
ClinVar RCV Id:
RCV003875156
dbSNP Id:
rs781839765
ExAC:
X:53436211 AG / A
gnomAD v3:
X-53409280-AG-A
gnomAD v4:
X-53409280-AG-A
MyVariant Identifiers:
chrX:g.53436212del (hg19)
chrX:g.53409282del (hg38)
chrX:g.53409281del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53409283del , CM000685.2:g.53409283del | GRCh38 |
| NC_000023.10:g.53436214del , CM000685.1:g.53436214del | GRCh37 |
| NC_000023.9:g.53452939del | NCBI36 |
| NG_006988.2:g.18390del , LRG_773:g.18390del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1338-12del MANE Select | ENSP00000323421.3:n.1338-12del | |
| ENST00000674590.1:c.570-12del | ENSP00000502626.1:n.570-12del | |
| ENST00000675065.1:n.690-12del | ||
| ENST00000675504.1:c.1272-12del | ENSP00000502524.1:n.1272-12del | |
| ENST00000322213.8:c.1338-12del | ENSP00000323421.3:n.1338-12del | |
| ENST00000375340.10:c.1272-12del | ENSP00000364489.7:n.1272-12del | |
| NM_001281463.1:c.1272-12del , LRG_773t1:c.1272-12del | NP_001268392.1:n.1272-12del | |
| NM_006306.3:c.1338-12del , LRG_773t2:c.1338-12del | NP_006297.2:n.1338-12del | |
| NM_006306.4:c.1338-12del MANE Select | NP_006297.2:n.1338-12del |