Linked Data
ClinVar Variation Id:
421727
ClinVar RCV Id:
RCV000485686
dbSNP Id:
rs1064795324
gnomAD v4:
X-53234385-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53234389del , CM000685.2:g.53234389del | GRCh38 |
| NC_000023.10:g.53263571del , CM000685.1:g.53263571del | GRCh37 |
| NC_000023.9:g.53280296del | NCBI36 |
| NG_021296.1:g.91955del | |
| NG_021296.2:g.91965del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706952.1:c.4459del | ENSP00000516672.1:p.His1487ThrfsTer? | |
| ENST00000638521.1:c.1453+1397del | ||
| ENST00000638869.1:c.962+1397del | ||
| ENST00000639796.1:c.316+1936del | ENSP00000492252.1:n.316+1936del | |
| ENST00000640005.1:c.514+1936del | ENSP00000491293.1:n.514+1936del | |
| ENST00000640694.1:c.*785del | ENSP00000492403.1:n.*785del | |
| ENST00000642864.1:c.4300del MANE Select | ENSP00000495726.1:p.His1434ThrfsTer? | |
| ENST00000674510.1:c.4300del | ENSP00000502054.1:p.His1434ThrfsTer? | |
| ENST00000675719.1:c.4270del | ENSP00000501927.1:p.His1424ThrfsTer? | |
| ENST00000375365.2:c.*785del | ENSP00000364514.2:n.*785del | |
| ENST00000396435.7:c.4300del | ENSP00000379712.3:p.His1434ThrfsTer? | |
| NM_001111125.2:c.4300del | NP_001104595.1:p.His1434ThrfsTer? | |
| NM_015075.1:c.*785del | NP_055890.1:n.*785del | |
| XM_006724579.2:c.4396del | XP_006724642.1:p.His1466ThrfsTer? | |
| XM_006724580.2:c.3685del | XP_006724643.1:p.His1229ThrfsTer? | |
| XM_006724581.2:c.3597+1397del | XP_006724644.1:n.3597+1397del | |
| XM_006724582.2:c.3597+1397del | XP_006724645.1:n.3597+1397del | |
| XM_006724583.2:c.3547+1936del | XP_006724646.1:n.3547+1936del | |
| XM_011530772.1:c.3622del | XP_011529074.1:p.His1208ThrfsTer? | |
| XM_011530773.1:c.3589del | XP_011529075.1:p.His1197ThrfsTer? | |
| XM_011530775.1:c.3547+1936del | XP_011529077.1:n.3547+1936del | |
| XM_006724579.3:c.4396del | XP_006724642.1:p.His1466ThrfsTer? | |
| XM_006724580.3:c.3685del | XP_006724643.1:p.His1229ThrfsTer? | |
| XM_006724581.4:c.3597+1397del | XP_006724644.1:n.3597+1397del | |
| XM_006724582.4:c.3597+1397del | XP_006724645.1:n.3597+1397del | |
| XM_006724583.4:c.3547+1936del | XP_006724646.1:n.3547+1936del | |
| XM_006724584.3:c.*785del | XP_006724647.1:n.*785del | |
| XM_011530773.2:c.3589del | XP_011529075.1:p.His1197ThrfsTer? | |
| XM_017029359.2:c.4270del | XP_016884848.1:p.His1424ThrfsTer? | |
| XM_017029360.1:c.3802del | XP_016884849.1:p.His1268ThrfsTer? | |
| NM_001111125.3:c.4300del MANE Select | NP_001104595.1:p.His1434ThrfsTer? | |
| NM_015075.2:c.*785del | NP_055890.1:n.*785del |