Linked Data
ClinVar Variation Id:
416368
dbSNP Id:
rs387906492
gnomAD v2:
X-25031776-TGCC-T
gnomAD v3:
X-25013659-TGCC-T
gnomAD v4:
X-25013659-TGCC-T
MyVariant Identifiers:
chrX:g.25031783_25031785del (hg19)
chrX:g.25031777_25031779del (hg19)
chrX:g.25013666_25013668del (hg38)
chrX:g.25013660_25013662del (hg38)
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013689_25013691del , CM000685.2:g.25013689_25013691del | GRCh38 |
| NC_000023.10:g.25031806_25031808del , CM000685.1:g.25031806_25031808del | GRCh37 |
| NC_000023.9:g.24941727_24941729del | NCBI36 |
| NG_008281.1:g.7287_7289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.333_335del MANE Select | ENSP00000368332.4:p.Ala112del | |
| ENST00000379044.4:c.333_335del | ENSP00000368332.4:p.Ala112del | |
| NM_139058.2:c.333_335del | NP_620689.1:p.Ala112del | |
| NM_139058.3:c.333_335del MANE Select | NP_620689.1:p.Ala112del |