Linked Data
dbSNP Id:
rs1273888687
gnomAD v3:
X-150641518-C-CA
gnomAD v4:
X-150641518-C-CA
MyVariant Identifiers:
chrX:g.150641518_150641519insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150641524dup , CM000685.2:g.150641524dup | GRCh38 |
| NC_000023.10:g.149809997dup , CM000685.1:g.149809997dup | GRCh37 |
| NC_000023.9:g.149560655dup | NCBI36 |
| NG_008199.1:g.77951dup , LRG_839:g.77951dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*211+106dup | ENSP00000509844.1:n.*211+106dup | |
| ENST00000685439.1:c.333+106dup | ENSP00000508454.1:n.333+106dup | |
| ENST00000685944.1:c.678+106dup | ENSP00000509266.1:n.678+106dup | |
| ENST00000686212.1:n.280+106dup | ||
| ENST00000687215.1:c.*433+106dup | ENSP00000509706.1:n.*433+106dup | |
| ENST00000688152.1:c.*122+106dup | ENSP00000509360.1:n.*122+106dup | |
| ENST00000688403.1:c.-67+106dup | ENSP00000508944.1:n.-67+106dup | |
| ENST00000689314.1:c.723+106dup | ENSP00000510607.1:n.723+106dup | |
| ENST00000689694.1:c.678+106dup | ENSP00000508718.1:n.678+106dup | |
| ENST00000689810.1:c.*327+106dup | ENSP00000510635.1:n.*327+106dup | |
| ENST00000690282.1:c.-67+106dup | ENSP00000509809.1:n.-67+106dup | |
| ENST00000690351.1:c.*330+106dup | ENSP00000509728.1:n.*330+106dup | |
| ENST00000691232.1:c.333+106dup | ENSP00000509675.1:n.333+106dup | |
| ENST00000691482.1:n.1693+106dup | ||
| ENST00000691686.1:c.678+106dup | ENSP00000509784.1:n.678+106dup | |
| ENST00000691851.1:c.678+106dup | ENSP00000510106.1:n.678+106dup | |
| ENST00000692015.1:c.465+106dup | ENSP00000510634.1:n.465+106dup | |
| ENST00000692638.1:c.*483+106dup | ENSP00000509412.1:n.*483+106dup | |
| ENST00000692852.1:c.678+106dup | ENSP00000510337.1:n.678+106dup | |
| ENST00000692915.1:c.*885+106dup | ENSP00000508547.1:n.*885+106dup | |
| ENST00000370396.7:c.678+106dup MANE Select | ENSP00000359423.3:n.678+106dup | |
| ENST00000306167.11:n.545+106dup | ||
| ENST00000370396.6:c.678+106dup | ENSP00000359423.2:n.678+106dup | |
| ENST00000490530.1:n.617+106dup | ||
| NM_000252.2:c.678+106dup , LRG_839t1:c.678+106dup | NP_000243.1:n.678+106dup | |
| XM_005274687.2:c.678+106dup | XP_005274744.1:n.678+106dup | |
| XM_011531170.1:c.744+106dup | XP_011529472.1:n.744+106dup | |
| XM_011531171.1:c.723+106dup | XP_011529473.1:n.723+106dup | |
| XM_011531172.1:c.723+106dup | XP_011529474.1:n.723+106dup | |
| XM_011531173.1:c.678+106dup | XP_011529475.1:n.678+106dup | |
| XM_011531173.2:c.678+106dup | XP_011529475.1:n.678+106dup | |
| XM_017029547.1:c.723+106dup | XP_016885036.1:n.723+106dup | |
| XM_017029548.1:c.723+106dup | XP_016885037.1:n.723+106dup | |
| XM_017029549.1:c.678+106dup | XP_016885038.1:n.678+106dup | |
| XM_017029550.1:c.567+106dup | XP_016885039.1:n.567+106dup | |
| XM_017029551.2:c.-67+106dup | XP_016885040.1:n.-67+106dup | |
| NM_000252.3:c.678+106dup MANE Select | NP_000243.1:n.678+106dup | |
| NM_001376906.1:c.678+106dup | NP_001363835.1:n.678+106dup | |
| NM_001376907.1:c.567+106dup | NP_001363836.1:n.567+106dup | |
| NM_001376908.1:c.678+106dup | NP_001363837.1:n.678+106dup |