Linked Data
ClinVar Variation Id:
1950623
ClinVar RCV Id:
RCV002681371
dbSNP Id:
rs1416992647
gnomAD v2:
X-25031475-T-TGCCCGGGCCGCC
gnomAD v3:
X-25013358-T-TGCCCGGGCCGCC
gnomAD v4:
X-25013358-T-TGCCCGGGCCGCC
MyVariant Identifiers:
chrX:g.25031475_25031476insGCCCGGGCCGCC (hg19)
chrX:g.25013358_25013359insGCCCGGGCCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013360_25013371dup , CM000685.2:g.25013360_25013371dup | GRCh38 |
| NC_000023.10:g.25031477_25031488dup , CM000685.1:g.25031477_25031488dup | GRCh37 |
| NC_000023.9:g.24941398_24941409dup | NCBI36 |
| NG_008281.1:g.7579_7590dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.625_636dup MANE Select | ENSP00000368332.4:p.Gly212_Ser213insGlyGl... | |
| ENST00000379044.4:c.625_636dup | ENSP00000368332.4:p.Gly212_Ser213insGlyGl... | |
| NM_139058.2:c.625_636dup | NP_620689.1:p.Gly212_Ser213insGlyGlyProGl... | |
| NM_139058.3:c.625_636dup MANE Select | NP_620689.1:p.Gly212_Ser213insGlyGlyProGl... |