Linked Data
dbSNP Id:
rs774400918
ExAC:
X:19373649 G / GC
gnomAD v2:
X-19373649-G-GC
gnomAD v4:
X-19355531-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355533dup , CM000685.2:g.19355533dup | GRCh38 |
| NC_000023.10:g.19373651dup , CM000685.1:g.19373651dup | GRCh37 |
| NC_000023.9:g.19283572dup | NCBI36 |
| NG_016781.1:g.16641dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.780+29dup | ENSP00000348062.6:n.780+29dup | |
| ENST00000379805.4:c.*451+29dup | ENSP00000369133.3:n.*451+29dup | |
| ENST00000417819.6:c.843+29dup | ENSP00000404616.2:n.843+29dup | |
| ENST00000423505.6:c.873+29dup | ENSP00000406473.2:n.873+29dup | |
| ENST00000481733.2:n.554+29dup | ||
| ENST00000696704.1:c.*91+29dup | ENSP00000512823.1:n.*91+29dup | |
| ENST00000696705.1:c.*214+29dup | ENSP00000512824.1:n.*214+29dup | |
| ENST00000422285.7:c.759+29dup MANE Select | ENSP00000394382.2:n.759+29dup | |
| ENST00000379806.9:c.873+29dup | ENSP00000369134.5:n.873+29dup | |
| ENST00000422285.6:c.759+29dup | ENSP00000394382.2:n.759+29dup | |
| ENST00000481733.1:n.187+29dup | ||
| ENST00000540249.5:c.666+29dup | ENSP00000440761.1:n.666+29dup | |
| ENST00000545074.5:c.780+29dup | ENSP00000438550.1:n.780+29dup | |
| NM_000284.3:c.759+29dup | NP_000275.1:n.759+29dup | |
| NM_001173454.1:c.873+29dup | NP_001166925.1:n.873+29dup | |
| NM_001173455.1:c.780+29dup | NP_001166926.1:n.780+29dup | |
| NM_001173456.1:c.666+29dup | NP_001166927.1:n.666+29dup | |
| XM_011545531.1:c.894+29dup | XP_011543833.1:n.894+29dup | |
| XM_011545532.1:c.801+29dup | XP_011543834.1:n.801+29dup | |
| XM_017029574.2:c.780+29dup | XP_016885063.1:n.780+29dup | |
| NM_000284.4:c.759+29dup MANE Select | NP_000275.1:n.759+29dup | |
| NM_001173454.2:c.873+29dup | NP_001166925.1:n.873+29dup | |
| NM_001173455.2:c.780+29dup | NP_001166926.1:n.780+29dup | |
| NM_001173456.2:c.666+29dup | NP_001166927.1:n.666+29dup |