Linked Data
dbSNP Id:
rs1175409560
gnomAD v3:
X-19358755-C-CCTATAGTGA
gnomAD v4:
X-19358755-C-CCTATAGTGA
MyVariant Identifiers:
chrX:g.19376873_19376874insCTATAGTGA (hg19)
chrX:g.19358755_19358756insCTATAGTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358757_19358765dup , CM000685.2:g.19358757_19358765dup | GRCh38 |
| NC_000023.10:g.19376875_19376883dup , CM000685.1:g.19376875_19376883dup | GRCh37 |
| NC_000023.9:g.19286796_19286804dup | NCBI36 |
| NG_016781.1:g.19865_19873dup | |
| NG_021184.1:g.161498_161506dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.921-159_921-151dup | ENSP00000348062.6:n.921-159_921-151dup | |
| ENST00000379805.4:c.*592-159_*592-151dup | ENSP00000369133.3:n.*592-159_*592-151dup | |
| ENST00000417819.6:c.984-159_984-151dup | ENSP00000404616.2:n.984-159_984-151dup | |
| ENST00000423505.6:c.1014-159_1014-151dup | ENSP00000406473.2:n.1014-159_1014-151dup | |
| ENST00000481733.2:n.695-159_695-151dup | ||
| ENST00000696704.1:c.*232-159_*232-151dup | ENSP00000512823.1:n.*232-159_*232-151dup | |
| ENST00000696705.1:c.*355-159_*355-151dup | ENSP00000512824.1:n.*355-159_*355-151dup | |
| ENST00000422285.7:c.900-159_900-151dup MANE Select | ENSP00000394382.2:n.900-159_900-151dup | |
| ENST00000379804.1:c.57-159_57-151dup | ENSP00000369132.1:n.57-159_57-151dup | |
| ENST00000379806.9:c.1014-159_1014-151dup | ENSP00000369134.5:n.1014-159_1014-151dup | |
| ENST00000422285.6:c.900-159_900-151dup | ENSP00000394382.2:n.900-159_900-151dup | |
| ENST00000478795.1:n.339-159_339-151dup | ||
| ENST00000481733.1:n.328-159_328-151dup | ||
| ENST00000540249.5:c.807-159_807-151dup | ENSP00000440761.1:n.807-159_807-151dup | |
| ENST00000545074.5:c.921-159_921-151dup | ENSP00000438550.1:n.921-159_921-151dup | |
| NM_000284.3:c.900-159_900-151dup | NP_000275.1:n.900-159_900-151dup | |
| NM_001173454.1:c.1014-159_1014-151dup | NP_001166925.1:n.1014-159_1014-151dup | |
| NM_001173455.1:c.921-159_921-151dup | NP_001166926.1:n.921-159_921-151dup | |
| NM_001173456.1:c.807-159_807-151dup | NP_001166927.1:n.807-159_807-151dup | |
| XM_011545531.1:c.1035-159_1035-151dup | XP_011543833.1:n.1035-159_1035-151dup | |
| XM_011545532.1:c.942-159_942-151dup | XP_011543834.1:n.942-159_942-151dup | |
| XM_017029574.2:c.921-159_921-151dup | XP_016885063.1:n.921-159_921-151dup | |
| NM_000284.4:c.900-159_900-151dup MANE Select | NP_000275.1:n.900-159_900-151dup | |
| NM_001173454.2:c.1014-159_1014-151dup | NP_001166925.1:n.1014-159_1014-151dup | |
| NM_001173455.2:c.921-159_921-151dup | NP_001166926.1:n.921-159_921-151dup | |
| NM_001173456.2:c.807-159_807-151dup | NP_001166927.1:n.807-159_807-151dup |