Linked Data
dbSNP Id:
rs1197483421
gnomAD v4:
X-53235252-CCT-C
MyVariant Identifiers:
chrX:g.53235253_53235254del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235253_53235254del , CM000685.2:g.53235253_53235254del | GRCh38 |
| NC_000023.10:g.53264435_53264436del , CM000685.1:g.53264435_53264436del | GRCh37 |
| NC_000023.9:g.53281160_53281161del | NCBI36 |
| NG_021296.1:g.91087_91088del | |
| NG_021296.2:g.91097_91098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3661-70_3661-69del | ENSP00000516672.1:n.3661-70_3661-69del | |
| ENST00000638521.1:c.1453+529_1453+530del | ||
| ENST00000638869.1:c.962+529_962+530del | ||
| ENST00000639796.1:c.316+1068_316+1069del | ENSP00000492252.1:n.316+1068_316+1069del | |
| ENST00000640005.1:c.514+1068_514+1069del | ENSP00000491293.1:n.514+1068_514+1069del | |
| ENST00000640436.1:n.482-70_482-69del | ||
| ENST00000640694.1:c.3452-70_3452-69del | ENSP00000492403.1:n.3452-70_3452-69del | |
| ENST00000642864.1:c.3502-70_3502-69del MANE Select | ENSP00000495726.1:n.3502-70_3502-69del | |
| ENST00000674510.1:c.3502-70_3502-69del | ENSP00000502054.1:n.3502-70_3502-69del | |
| ENST00000675719.1:c.3472-70_3472-69del | ENSP00000501927.1:n.3472-70_3472-69del | |
| ENST00000375365.2:c.2837-70_2837-69del | ENSP00000364514.2:n.2837-70_2837-69del | |
| ENST00000396435.7:c.3502-70_3502-69del | ENSP00000379712.3:n.3502-70_3502-69del | |
| NM_001111125.2:c.3502-70_3502-69del | NP_001104595.1:n.3502-70_3502-69del | |
| NM_015075.1:c.2837-70_2837-69del | NP_055890.1:n.2837-70_2837-69del | |
| XM_006724579.2:c.3598-70_3598-69del | XP_006724642.1:n.3598-70_3598-69del | |
| XM_006724580.2:c.2887-70_2887-69del | XP_006724643.1:n.2887-70_2887-69del | |
| XM_006724581.2:c.3597+529_3597+530del | XP_006724644.1:n.3597+529_3597+530del | |
| XM_006724582.2:c.3597+529_3597+530del | XP_006724645.1:n.3597+529_3597+530del | |
| XM_006724583.2:c.3547+1068_3547+1069del | XP_006724646.1:n.3547+1068_3547+1069del | |
| XM_006724584.2:c.3548-70_3548-69del | XP_006724647.1:n.3548-70_3548-69del | |
| XM_011530772.1:c.2824-70_2824-69del | XP_011529074.1:n.2824-70_2824-69del | |
| XM_011530773.1:c.2791-70_2791-69del | XP_011529075.1:n.2791-70_2791-69del | |
| XM_011530774.1:c.*233_*234del | XP_011529076.1:n.*233_*234del | |
| XM_011530775.1:c.3547+1068_3547+1069del | XP_011529077.1:n.3547+1068_3547+1069del | |
| XM_006724579.3:c.3598-70_3598-69del | XP_006724642.1:n.3598-70_3598-69del | |
| XM_006724580.3:c.2887-70_2887-69del | XP_006724643.1:n.2887-70_2887-69del | |
| XM_006724581.4:c.3597+529_3597+530del | XP_006724644.1:n.3597+529_3597+530del | |
| XM_006724582.4:c.3597+529_3597+530del | XP_006724645.1:n.3597+529_3597+530del | |
| XM_006724583.4:c.3547+1068_3547+1069del | XP_006724646.1:n.3547+1068_3547+1069del | |
| XM_006724584.3:c.3548-70_3548-69del | XP_006724647.1:n.3548-70_3548-69del | |
| XM_011530773.2:c.2791-70_2791-69del | XP_011529075.1:n.2791-70_2791-69del | |
| XM_011530774.3:c.*233_*234del | XP_011529076.1:n.*233_*234del | |
| XM_017029359.2:c.3472-70_3472-69del | XP_016884848.1:n.3472-70_3472-69del | |
| XM_017029360.1:c.3004-70_3004-69del | XP_016884849.1:n.3004-70_3004-69del | |
| NM_001111125.3:c.3502-70_3502-69del MANE Select | NP_001104595.1:n.3502-70_3502-69del | |
| NM_015075.2:c.2837-70_2837-69del | NP_055890.1:n.2837-70_2837-69del |