Linked Data
ClinVar Variation Id:
1426196
ClinVar RCV Id:
RCV001929288
dbSNP Id:
rs1460450589
gnomAD v3:
X-25013548-C-CGCGGCT
gnomAD v4:
X-25013548-C-CGCGGCT
MyVariant Identifiers:
chrX:g.25031665_25031666insGCGGCT (hg19)
chrX:g.25013548_25013549insGCGGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013551_25013556dup , CM000685.2:g.25013551_25013556dup | GRCh38 |
| NC_000023.10:g.25031668_25031673dup , CM000685.1:g.25031668_25031673dup | GRCh37 |
| NC_000023.9:g.24941589_24941594dup | NCBI36 |
| NG_008281.1:g.7395_7400dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.441_446dup MANE Select | ENSP00000368332.4:p.Ala149_Ala150insAlaAl... | |
| ENST00000379044.4:c.441_446dup | ENSP00000368332.4:p.Ala149_Ala150insAlaAl... | |
| NM_139058.2:c.441_446dup | NP_620689.1:p.Ala149_Ala150insAlaAla | |
| NM_139058.3:c.441_446dup MANE Select | NP_620689.1:p.Ala149_Ala150insAlaAla |