Linked Data
ClinVar Variation Id:
226124
ClinVar RCV Id:
RCV000211119
dbSNP Id:
rs875989809
MyVariant Identifiers:
chrX:g.77392410_77392414delinsTT (hg19)
chrX:g.78136913_78136917delinsTT (hg38)
PubMed:
PMID:27159028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78136913_78136917delinsTT , CM000685.2:g.78136913_78136917delinsTT | GRCh38 |
| NC_000023.10:g.77392410_77392414delinsTT , CM000685.1:g.77392410_77392414delinsTT | GRCh37 |
| NC_000023.9:g.77279066_77279070delinsTT | NCBI36 |
| NG_012570.1:g.7766_7770delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341864.6:c.479_481+2delinsAA | ||
| ENST00000341864.5:c.479_481+2delinsAA | ||
| ENST00000480681.1:n.568_570+2delinsAA | ||
| NM_015975.4:c.479_481+2delinsAA | ||
| NM_015975.5:c.479_481+2delinsAA |