Linked Data
ClinVar Variation Id:
3024711
ClinVar RCV Id:
RCV003885587
dbSNP Id:
rs34035058
ExAC:
X:152959537 AG / A
gnomAD v2:
X-152959537-AG-A
gnomAD v3:
X-153694082-AG-A
gnomAD v4:
X-153694082-AG-A
MyVariant Identifiers:
chrX:g.152959538del (hg19)
chrX:g.153694084del (hg38)
chrX:g.153694083del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694086del , CM000685.2:g.153694086del | GRCh38 |
| NC_000023.10:g.152959541del , CM000685.1:g.152959541del | GRCh37 |
| NC_000023.9:g.152612735del | NCBI36 |
| NG_012016.1:g.10790del | |
| NG_012016.2:g.10790del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1255-44del MANE Select | ENSP00000253122.5:n.1255-44del | |
| ENST00000253122.9:c.1255-44del | ENSP00000253122.5:n.1255-44del | |
| ENST00000413787.1:c.258-118del | ENSP00000400463.1:n.258-118del | |
| ENST00000430077.6:c.910-44del | ENSP00000403041.2:n.910-44del | |
| ENST00000442457.1:c.309-44del | ||
| ENST00000457723.1:c.239-51del | ENSP00000394742.1:n.239-51del | |
| ENST00000485324.1:n.1356del | ||
| NM_001142805.1:c.1225-44del | NP_001136277.1:n.1225-44del | |
| NM_001142806.1:c.910-44del | NP_001136278.1:n.910-44del | |
| NM_005629.3:c.1255-44del | NP_005620.1:n.1255-44del | |
| NM_005629.4:c.1255-44del MANE Select | NP_005620.1:n.1255-44del | |
| NM_001142805.2:c.1225-44del | NP_001136277.1:n.1225-44del |