Linked Data
ClinVar Variation Id:
96456
dbSNP Id:
rs398124512
gnomAD v3:
X-25013536-G-GGCGGCC
gnomAD v4:
X-25013536-G-GGCGGCC
MyVariant Identifiers:
chrX:g.25031654_25031659dup (hg19)
chrX:g.25031654_25031659dupGCGGCC (hg19)
chrX:g.25031653_25031654insGCGGCC (hg19)
chrX:g.25013537_25013542dupGCGGCC (hg38)
chrX:g.25013536_25013537insGCGGCC (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013548_25013553dup , CM000685.2:g.25013548_25013553dup | GRCh38 |
| NC_000023.10:g.25031665_25031670dup , CM000685.1:g.25031665_25031670dup | GRCh37 |
| NC_000023.9:g.24941586_24941591dup | NCBI36 |
| NG_008281.1:g.7407_7412dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.453_458dup MANE Select | ENSP00000368332.4:p.Ala153_Ala154insAlaAl... | |
| ENST00000379044.4:c.453_458dup | ENSP00000368332.4:p.Ala153_Ala154insAlaAl... | |
| NM_139058.2:c.453_458dup | NP_620689.1:p.Ala153_Ala154insAlaAla | |
| NM_139058.3:c.453_458dup MANE Select | NP_620689.1:p.Ala153_Ala154insAlaAla |