Linked Data
ClinVar Variation Id:
10891
ClinVar RCV Id:
RCV000011638
dbSNP Id:
rs1555935690
MyVariant Identifiers:
chrX:g.19377850_19377861dupAGTCAATGAAAT (hg19)
chrX:g.19377861_19377862insAGTCAATGAAAT (hg19)
chrX:g.19359732_19359743dupAGTCAATGAAAT (hg38)
chrX:g.19359743_19359744insAGTCAATGAAAT (hg38)
PubMed:
PMID:10486093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359732_19359743dup , CM000685.2:g.19359732_19359743dup | GRCh38 |
| NC_000023.10:g.19377850_19377861dup , CM000685.1:g.19377850_19377861dup | GRCh37 |
| NC_000023.9:g.19287771_19287782dup | NCBI36 |
| NG_016781.1:g.20840_20851dup | |
| NG_021184.1:g.160519_160530dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.*79_*90dup | ENSP00000348062.6:n.*79_*90dup | |
| ENST00000379805.4:c.*944_*955dup | ENSP00000369133.3:n.*944_*955dup | |
| ENST00000417819.6:c.*79_*90dup | ENSP00000404616.2:n.*79_*90dup | |
| ENST00000423505.6:c.*79_*90dup | ENSP00000406473.2:n.*79_*90dup | |
| ENST00000481733.2:n.1047_1058dup | ||
| ENST00000696704.1:c.*584_*595dup | ENSP00000512823.1:n.*584_*595dup | |
| ENST00000696705.1:c.*707_*718dup | ENSP00000512824.1:n.*707_*718dup | |
| ENST00000422285.7:c.*79_*90dup MANE Select | ENSP00000394382.2:n.*79_*90dup | |
| ENST00000379804.1:c.*79_*90dup | ENSP00000369132.1:n.*79_*90dup | |
| ENST00000379806.9:c.*79_*90dup | ENSP00000369134.5:n.*79_*90dup | |
| ENST00000422285.6:c.*79_*90dup | ENSP00000394382.2:n.*79_*90dup | |
| ENST00000478795.1:n.691_702dup | ||
| ENST00000540249.5:c.*79_*90dup | ENSP00000440761.1:n.*79_*90dup | |
| ENST00000545074.5:c.*79_*90dup | ENSP00000438550.1:n.*79_*90dup | |
| NM_000284.3:c.*79_*90dup | NP_000275.1:n.*79_*90dup | |
| NM_001173454.1:c.*79_*90dup | NP_001166925.1:n.*79_*90dup | |
| NM_001173455.1:c.*79_*90dup | NP_001166926.1:n.*79_*90dup | |
| NM_001173456.1:c.*79_*90dup | NP_001166927.1:n.*79_*90dup | |
| XM_011545531.1:c.*79_*90dup | XP_011543833.1:n.*79_*90dup | |
| XM_011545532.1:c.*79_*90dup | XP_011543834.1:n.*79_*90dup | |
| XM_017029574.2:c.*79_*90dup | XP_016885063.1:n.*79_*90dup | |
| NM_000284.4:c.*79_*90dup MANE Select | NP_000275.1:n.*79_*90dup | |
| NM_001173454.2:c.*79_*90dup | NP_001166925.1:n.*79_*90dup | |
| NM_001173455.2:c.*79_*90dup | NP_001166926.1:n.*79_*90dup | |
| NM_001173456.2:c.*79_*90dup | NP_001166927.1:n.*79_*90dup |