Linked Data
ClinVar Variation Id:
1957704
ClinVar RCV Id:
RCV002725274
dbSNP Id:
rs1435712891
gnomAD v2:
X-19375761-C-CTGTT
gnomAD v4:
X-19357643-C-CTGTT
MyVariant Identifiers:
chrX:g.19375761_19375762insTGTT (hg19)
chrX:g.19357643_19357644insTGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357645_19357648dup , CM000685.2:g.19357645_19357648dup | GRCh38 |
| NC_000023.10:g.19375763_19375766dup , CM000685.1:g.19375763_19375766dup | GRCh37 |
| NC_000023.9:g.19285684_19285687dup | NCBI36 |
| NG_016781.1:g.18753_18756dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.853-7_853-4dup | ENSP00000348062.6:n.853-7_853-4dup | |
| ENST00000379805.4:c.*524-7_*524-4dup | ENSP00000369133.3:n.*524-7_*524-4dup | |
| ENST00000417819.6:c.916-7_916-4dup | ENSP00000404616.2:n.916-7_916-4dup | |
| ENST00000423505.6:c.946-7_946-4dup | ENSP00000406473.2:n.946-7_946-4dup | |
| ENST00000481733.2:n.627-7_627-4dup | ||
| ENST00000696704.1:c.*164-7_*164-4dup | ENSP00000512823.1:n.*164-7_*164-4dup | |
| ENST00000696705.1:c.*287-7_*287-4dup | ENSP00000512824.1:n.*287-7_*287-4dup | |
| ENST00000422285.7:c.832-7_832-4dup MANE Select | ENSP00000394382.2:n.832-7_832-4dup | |
| ENST00000379804.1:c.-12-7_-12-4dup | ENSP00000369132.1:n.-12-7_-12-4dup | |
| ENST00000379806.9:c.946-7_946-4dup | ENSP00000369134.5:n.946-7_946-4dup | |
| ENST00000422285.6:c.832-7_832-4dup | ENSP00000394382.2:n.832-7_832-4dup | |
| ENST00000478795.1:n.264_267dup | ||
| ENST00000481733.1:n.260-7_260-4dup | ||
| ENST00000540249.5:c.739-7_739-4dup | ENSP00000440761.1:n.739-7_739-4dup | |
| ENST00000545074.5:c.853-7_853-4dup | ENSP00000438550.1:n.853-7_853-4dup | |
| NM_000284.3:c.832-7_832-4dup | NP_000275.1:n.832-7_832-4dup | |
| NM_001173454.1:c.946-7_946-4dup | NP_001166925.1:n.946-7_946-4dup | |
| NM_001173455.1:c.853-7_853-4dup | NP_001166926.1:n.853-7_853-4dup | |
| NM_001173456.1:c.739-7_739-4dup | NP_001166927.1:n.739-7_739-4dup | |
| XM_011545531.1:c.967-7_967-4dup | XP_011543833.1:n.967-7_967-4dup | |
| XM_011545532.1:c.874-7_874-4dup | XP_011543834.1:n.874-7_874-4dup | |
| XM_017029574.2:c.853-7_853-4dup | XP_016885063.1:n.853-7_853-4dup | |
| NM_000284.4:c.832-7_832-4dup MANE Select | NP_000275.1:n.832-7_832-4dup | |
| NM_001173454.2:c.946-7_946-4dup | NP_001166925.1:n.946-7_946-4dup | |
| NM_001173455.2:c.853-7_853-4dup | NP_001166926.1:n.853-7_853-4dup | |
| NM_001173456.2:c.739-7_739-4dup | NP_001166927.1:n.739-7_739-4dup |