Linked Data
dbSNP Id:
rs1453996664
gnomAD v3:
X-19359138-T-TAAATAGTTCCATAGTTCC
gnomAD v4:
X-19359138-T-TAAATAGTTCCATAGTTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359142_19359159dup , CM000685.2:g.19359142_19359159dup | GRCh38 |
| NC_000023.10:g.19377260_19377277dup , CM000685.1:g.19377260_19377277dup | GRCh37 |
| NC_000023.9:g.19287181_19287198dup | NCBI36 |
| NG_016781.1:g.20250_20267dup | |
| NG_021184.1:g.161106_161123dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.1029+118_1029+135dup | ENSP00000348062.6:n.1029+118_1029+135dup | |
| ENST00000379805.4:c.*700+118_*700+135dup | ENSP00000369133.3:n.*700+118_*700+135dup | |
| ENST00000417819.6:c.1092+118_1092+135dup | ENSP00000404616.2:n.1092+118_1092+135dup | |
| ENST00000423505.6:c.1122+118_1122+135dup | ENSP00000406473.2:n.1122+118_1122+135dup | |
| ENST00000481733.2:n.803+118_803+135dup | ||
| ENST00000696704.1:c.*340+118_*340+135dup | ENSP00000512823.1:n.*340+118_*340+135dup | |
| ENST00000696705.1:c.*463+118_*463+135dup | ENSP00000512824.1:n.*463+118_*463+135dup | |
| ENST00000422285.7:c.1008+118_1008+135dup MANE Select | ENSP00000394382.2:n.1008+118_1008+135dup | |
| ENST00000379804.1:c.165+118_165+135dup | ENSP00000369132.1:n.165+118_165+135dup | |
| ENST00000379806.9:c.1122+118_1122+135dup | ENSP00000369134.5:n.1122+118_1122+135dup | |
| ENST00000422285.6:c.1008+118_1008+135dup | ENSP00000394382.2:n.1008+118_1008+135dup | |
| ENST00000478795.1:n.447+118_447+135dup | ||
| ENST00000540249.5:c.915+118_915+135dup | ENSP00000440761.1:n.915+118_915+135dup | |
| ENST00000545074.5:c.1029+118_1029+135dup | ENSP00000438550.1:n.1029+118_1029+135dup | |
| NM_000284.3:c.1008+118_1008+135dup | NP_000275.1:n.1008+118_1008+135dup | |
| NM_001173454.1:c.1122+118_1122+135dup | NP_001166925.1:n.1122+118_1122+135dup | |
| NM_001173455.1:c.1029+118_1029+135dup | NP_001166926.1:n.1029+118_1029+135dup | |
| NM_001173456.1:c.915+118_915+135dup | NP_001166927.1:n.915+118_915+135dup | |
| XM_011545531.1:c.1143+118_1143+135dup | XP_011543833.1:n.1143+118_1143+135dup | |
| XM_011545532.1:c.1050+118_1050+135dup | XP_011543834.1:n.1050+118_1050+135dup | |
| XM_017029574.2:c.1029+118_1029+135dup | XP_016885063.1:n.1029+118_1029+135dup | |
| NM_000284.4:c.1008+118_1008+135dup MANE Select | NP_000275.1:n.1008+118_1008+135dup | |
| NM_001173454.2:c.1122+118_1122+135dup | NP_001166925.1:n.1122+118_1122+135dup | |
| NM_001173455.2:c.1029+118_1029+135dup | NP_001166926.1:n.1029+118_1029+135dup | |
| NM_001173456.2:c.915+118_915+135dup | NP_001166927.1:n.915+118_915+135dup |