Linked Data
ClinVar Variation Id:
133486
dbSNP Id:
rs587778022
gnomAD v2:
X-63412004-ACCTCTTCTT-A
gnomAD v3:
X-64192124-ACCTCTTCTT-A
gnomAD v4:
X-64192124-ACCTCTTCTT-A
MyVariant Identifiers:
chrX:g.63412005_63412013del (hg19)
chrX:g.64192126_64192134del (hg38)
chrX:g.64192125_64192133del (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192138_64192146del , CM000685.2:g.64192138_64192146del | GRCh38 |
| NC_000023.10:g.63412018_63412026del , CM000685.1:g.63412018_63412026del | GRCh37 |
| NC_000023.9:g.63328743_63328751del | NCBI36 |
| NG_021345.1:g.18612_18620del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1154_1162del MANE Select | ENSP00000364003.4:p.Glu385_Glu387del | |
| ENST00000330258.3:c.1154_1162del | ENSP00000329117.3:p.Glu385_Glu387del | |
| ENST00000374869.7:c.1154_1162del | ENSP00000364003.3:p.Glu385_Glu387del | |
| NM_152424.3:c.1154_1162del | NP_689637.3:p.Glu385_Glu387del | |
| XM_011530858.1:c.1154_1162del | XP_011529160.1:p.Glu385_Glu387del | |
| NM_152424.4:c.1154_1162del MANE Select | NP_689637.3:p.Glu385_Glu387del |