Linked Data
dbSNP Id:
rs1030617886
MyVariant Identifiers:
chrX:g.19375996_19375997insAATA (hg19)
chrX:g.19357878_19357879insAATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357880_19357883dup , CM000685.2:g.19357880_19357883dup | GRCh38 |
| NC_000023.10:g.19375998_19376001dup , CM000685.1:g.19375998_19376001dup | GRCh37 |
| NC_000023.9:g.19285919_19285922dup | NCBI36 |
| NG_016781.1:g.18988_18991dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.920+161_920+164dup | ENSP00000348062.6:n.920+161_920+164dup | |
| ENST00000379805.4:c.*591+161_*591+164dup | ENSP00000369133.3:n.*591+161_*591+164dup | |
| ENST00000417819.6:c.983+161_983+164dup | ENSP00000404616.2:n.983+161_983+164dup | |
| ENST00000423505.6:c.1013+161_1013+164dup | ENSP00000406473.2:n.1013+161_1013+164dup | |
| ENST00000481733.2:n.694+161_694+164dup | ||
| ENST00000696704.1:c.*231+161_*231+164dup | ENSP00000512823.1:n.*231+161_*231+164dup | |
| ENST00000696705.1:c.*354+161_*354+164dup | ENSP00000512824.1:n.*354+161_*354+164dup | |
| ENST00000422285.7:c.899+161_899+164dup MANE Select | ENSP00000394382.2:n.899+161_899+164dup | |
| ENST00000379804.1:c.56+161_56+164dup | ENSP00000369132.1:n.56+161_56+164dup | |
| ENST00000379806.9:c.1013+161_1013+164dup | ENSP00000369134.5:n.1013+161_1013+164dup | |
| ENST00000422285.6:c.899+161_899+164dup | ENSP00000394382.2:n.899+161_899+164dup | |
| ENST00000478795.1:n.338+161_338+164dup | ||
| ENST00000481733.1:n.327+161_327+164dup | ||
| ENST00000540249.5:c.806+161_806+164dup | ENSP00000440761.1:n.806+161_806+164dup | |
| ENST00000545074.5:c.920+161_920+164dup | ENSP00000438550.1:n.920+161_920+164dup | |
| NM_000284.3:c.899+161_899+164dup | NP_000275.1:n.899+161_899+164dup | |
| NM_001173454.1:c.1013+161_1013+164dup | NP_001166925.1:n.1013+161_1013+164dup | |
| NM_001173455.1:c.920+161_920+164dup | NP_001166926.1:n.920+161_920+164dup | |
| NM_001173456.1:c.806+161_806+164dup | NP_001166927.1:n.806+161_806+164dup | |
| XM_011545531.1:c.1034+161_1034+164dup | XP_011543833.1:n.1034+161_1034+164dup | |
| XM_011545532.1:c.941+161_941+164dup | XP_011543834.1:n.941+161_941+164dup | |
| XM_017029574.2:c.920+161_920+164dup | XP_016885063.1:n.920+161_920+164dup | |
| NM_000284.4:c.899+161_899+164dup MANE Select | NP_000275.1:n.899+161_899+164dup | |
| NM_001173454.2:c.1013+161_1013+164dup | NP_001166925.1:n.1013+161_1013+164dup | |
| NM_001173455.2:c.920+161_920+164dup | NP_001166926.1:n.920+161_920+164dup | |
| NM_001173456.2:c.806+161_806+164dup | NP_001166927.1:n.806+161_806+164dup |