Linked Data
dbSNP Id:
rs1321960907
gnomAD v2:
X-19375568-G-GAGAA
gnomAD v3:
X-19357450-G-GAGAA
gnomAD v4:
X-19357450-G-GAGAA
MyVariant Identifiers:
chrX:g.19375568_19375569insAGAA (hg19)
chrX:g.19357450_19357451insAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357454_19357457dup , CM000685.2:g.19357454_19357457dup | GRCh38 |
| NC_000023.10:g.19375572_19375575dup , CM000685.1:g.19375572_19375575dup | GRCh37 |
| NC_000023.9:g.19285493_19285496dup | NCBI36 |
| NG_016781.1:g.18562_18565dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.853-198_853-195dup | ENSP00000348062.6:n.853-198_853-195dup | |
| ENST00000379805.4:c.*524-198_*524-195dup | ENSP00000369133.3:n.*524-198_*524-195dup | |
| ENST00000417819.6:c.916-198_916-195dup | ENSP00000404616.2:n.916-198_916-195dup | |
| ENST00000423505.6:c.946-198_946-195dup | ENSP00000406473.2:n.946-198_946-195dup | |
| ENST00000481733.2:n.627-198_627-195dup | ||
| ENST00000696704.1:c.*164-198_*164-195dup | ENSP00000512823.1:n.*164-198_*164-195dup | |
| ENST00000696705.1:c.*287-198_*287-195dup | ENSP00000512824.1:n.*287-198_*287-195dup | |
| ENST00000422285.7:c.832-198_832-195dup MANE Select | ENSP00000394382.2:n.832-198_832-195dup | |
| ENST00000379804.1:c.-12-198_-12-195dup | ENSP00000369132.1:n.-12-198_-12-195dup | |
| ENST00000379806.9:c.946-198_946-195dup | ENSP00000369134.5:n.946-198_946-195dup | |
| ENST00000422285.6:c.832-198_832-195dup | ENSP00000394382.2:n.832-198_832-195dup | |
| ENST00000478795.1:n.73_76dup | ||
| ENST00000481733.1:n.260-198_260-195dup | ||
| ENST00000540249.5:c.739-198_739-195dup | ENSP00000440761.1:n.739-198_739-195dup | |
| ENST00000545074.5:c.853-198_853-195dup | ENSP00000438550.1:n.853-198_853-195dup | |
| NM_000284.3:c.832-198_832-195dup | NP_000275.1:n.832-198_832-195dup | |
| NM_001173454.1:c.946-198_946-195dup | NP_001166925.1:n.946-198_946-195dup | |
| NM_001173455.1:c.853-198_853-195dup | NP_001166926.1:n.853-198_853-195dup | |
| NM_001173456.1:c.739-198_739-195dup | NP_001166927.1:n.739-198_739-195dup | |
| XM_011545531.1:c.967-198_967-195dup | XP_011543833.1:n.967-198_967-195dup | |
| XM_011545532.1:c.874-198_874-195dup | XP_011543834.1:n.874-198_874-195dup | |
| XM_017029574.2:c.853-198_853-195dup | XP_016885063.1:n.853-198_853-195dup | |
| NM_000284.4:c.832-198_832-195dup MANE Select | NP_000275.1:n.832-198_832-195dup | |
| NM_001173454.2:c.946-198_946-195dup | NP_001166925.1:n.946-198_946-195dup | |
| NM_001173455.2:c.853-198_853-195dup | NP_001166926.1:n.853-198_853-195dup | |
| NM_001173456.2:c.739-198_739-195dup | NP_001166927.1:n.739-198_739-195dup |