Linked Data
dbSNP Id:
rs1602257995
gnomAD v2:
X-53264301-T-TGG
gnomAD v3:
X-53235119-T-TGG
gnomAD v4:
X-53235119-T-TGG
MyVariant Identifiers:
chrX:g.53264301_53264302insGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235120_53235121dup , CM000685.2:g.53235120_53235121dup | GRCh38 |
| NC_000023.10:g.53264302_53264303dup , CM000685.1:g.53264302_53264303dup | GRCh37 |
| NC_000023.9:g.53281027_53281028dup | NCBI36 |
| NG_021296.1:g.91220_91221dup | |
| NG_021296.2:g.91230_91231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3724_3725dup | ENSP00000516672.1:p.Glu1243GlnfsTer? | |
| ENST00000638521.1:c.1453+662_1453+663dup | ||
| ENST00000638869.1:c.962+662_962+663dup | ||
| ENST00000639796.1:c.316+1201_316+1202dup | ENSP00000492252.1:n.316+1201_316+1202dup | |
| ENST00000640005.1:c.514+1201_514+1202dup | ENSP00000491293.1:n.514+1201_514+1202dup | |
| ENST00000640436.1:n.545_546dup | ||
| ENST00000640694.1:c.*50_*51dup | ENSP00000492403.1:n.*50_*51dup | |
| ENST00000642864.1:c.3565_3566dup MANE Select | ENSP00000495726.1:p.Glu1190GlnfsTer? | |
| ENST00000674510.1:c.3565_3566dup | ENSP00000502054.1:p.Glu1190GlnfsTer? | |
| ENST00000675719.1:c.3535_3536dup | ENSP00000501927.1:p.Glu1180GlnfsTer? | |
| ENST00000375365.2:c.*50_*51dup | ENSP00000364514.2:n.*50_*51dup | |
| ENST00000396435.7:c.3565_3566dup | ENSP00000379712.3:p.Glu1190GlnfsTer? | |
| NM_001111125.2:c.3565_3566dup | NP_001104595.1:p.Glu1190GlnfsTer? | |
| NM_015075.1:c.*50_*51dup | NP_055890.1:n.*50_*51dup | |
| XM_006724579.2:c.3661_3662dup | XP_006724642.1:p.Glu1222GlnfsTer? | |
| XM_006724580.2:c.2950_2951dup | XP_006724643.1:p.Glu985GlnfsTer? | |
| XM_006724581.2:c.3597+662_3597+663dup | XP_006724644.1:n.3597+662_3597+663dup | |
| XM_006724582.2:c.3597+662_3597+663dup | XP_006724645.1:n.3597+662_3597+663dup | |
| XM_006724583.2:c.3547+1201_3547+1202dup | XP_006724646.1:n.3547+1201_3547+1202dup | |
| XM_006724584.2:c.*50_*51dup | XP_006724647.1:n.*50_*51dup | |
| XM_011530772.1:c.2887_2888dup | XP_011529074.1:p.Glu964GlnfsTer? | |
| XM_011530773.1:c.2854_2855dup | XP_011529075.1:p.Glu953GlnfsTer? | |
| XM_011530775.1:c.3547+1201_3547+1202dup | XP_011529077.1:n.3547+1201_3547+1202dup | |
| XM_006724579.3:c.3661_3662dup | XP_006724642.1:p.Glu1222GlnfsTer? | |
| XM_006724580.3:c.2950_2951dup | XP_006724643.1:p.Glu985GlnfsTer? | |
| XM_006724581.4:c.3597+662_3597+663dup | XP_006724644.1:n.3597+662_3597+663dup | |
| XM_006724582.4:c.3597+662_3597+663dup | XP_006724645.1:n.3597+662_3597+663dup | |
| XM_006724583.4:c.3547+1201_3547+1202dup | XP_006724646.1:n.3547+1201_3547+1202dup | |
| XM_006724584.3:c.*50_*51dup | XP_006724647.1:n.*50_*51dup | |
| XM_011530773.2:c.2854_2855dup | XP_011529075.1:p.Glu953GlnfsTer? | |
| XM_017029359.2:c.3535_3536dup | XP_016884848.1:p.Glu1180GlnfsTer? | |
| XM_017029360.1:c.3067_3068dup | XP_016884849.1:p.Glu1024GlnfsTer? | |
| NM_001111125.3:c.3565_3566dup MANE Select | NP_001104595.1:p.Glu1190GlnfsTer? | |
| NM_015075.2:c.*50_*51dup | NP_055890.1:n.*50_*51dup |