Linked Data
ClinVar Variation Id:
96455
dbSNP Id:
rs398124510
gnomAD v3:
X-25013530-G-GGCCGCGGCGGCCGCGGCCGCGGCT
gnomAD v4:
X-25013530-G-GGCCGCGGCGGCCGCGGCCGCGGCT
MyVariant Identifiers:
chrX:g.25031648_25031671dup (hg19)
chrX:g.25031648_25031671dup24 (hg19)
chrX:g.25031647_25031648insGCCGCGGCGGCCGCGGCCGCGGCT (hg19)
chrX:g.25013531_25013554dup24 (hg38)
chrX:g.25013530_25013531insGCCGCGGCGGCCGCGGCCGCGGCT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013543_25013566dup , CM000685.2:g.25013543_25013566dup | GRCh38 |
| NC_000023.10:g.25031660_25031683dup , CM000685.1:g.25031660_25031683dup | GRCh37 |
| NC_000023.9:g.24941581_24941604dup | NCBI36 |
| NG_008281.1:g.7395_7418dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.441_464dup MANE Select | ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla | |
| ENST00000379044.4:c.441_464dup | ENSP00000368332.4:p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_139058.2:c.441_464dup | NP_620689.1:p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla | |
| NM_139058.3:c.441_464dup MANE Select | NP_620689.1:p.Ala155_Trp156insAlaAlaAlaAlaAlaAlaAlaAla |