UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
11057
dbSNP Id:
rs587783791
MyVariant Identifiers:
chrX:g.149767060_149767063del (hg19)
chrX:g.149767060_149767063delAGAA (hg19)
chrX:g.150598596_150598599del (hg38)
PubMed:
PMID:9450905
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150598596_150598599del , CM000685.2:g.150598596_150598599del | GRCh38 |
| NC_000023.10:g.149767060_149767063del , CM000685.1:g.149767060_149767063del | GRCh37 |
| NC_000023.9:g.149517718_149517721del | NCBI36 |
| NG_008199.1:g.35014_35017del , LRG_839:g.35014_35017del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684910.1:c.136+2026_136+2029del | ENSP00000509844.1:n.136+2026_136+2029del | |
| ENST00000685439.1:c.-3-20442_-3-20439del | ENSP00000508454.1:n.-3-20442_-3-20439del | |
| ENST00000685944.1:c.141_144del | ENSP00000509266.1:p.Glu48LeufsTer24 | |
| ENST00000687215.1:c.-145_-142del | ENSP00000509706.1:n.-145_-142del | |
| ENST00000687365.1:n.196_199del | ||
| ENST00000688152.1:c.141_144del | ENSP00000509360.1:p.Glu48LeufsTer24 | |
| ENST00000688403.1:c.-301+29734_-301+29737del | ENSP00000508944.1:n.-301+29734_-301+29737... | |
| ENST00000689314.1:c.141_144del | ENSP00000510607.1:p.Glu48LeufsTer24 | |
| ENST00000689694.1:c.141_144del | ENSP00000508718.1:p.Glu48LeufsTer24 | |
| ENST00000689810.1:c.141_144del | ENSP00000510635.1:p.Glu48LeufsTer24 | |
| ENST00000690282.1:c.-301+29878_-301+29881del | ENSP00000509809.1:n.-301+29878_-301+29881... | |
| ENST00000690351.1:c.136+2026_136+2029del | ENSP00000509728.1:n.136+2026_136+2029del | |
| ENST00000691232.1:c.-3-20442_-3-20439del | ENSP00000509675.1:n.-3-20442_-3-20439del | |
| ENST00000691686.1:c.141_144del | ENSP00000509784.1:p.Glu48LeufsTer24 | |
| ENST00000691851.1:c.141_144del | ENSP00000510106.1:p.Glu48LeufsTer24 | |
| ENST00000692015.1:c.141_144del | ENSP00000510634.1:p.Glu48LeufsTer24 | |
| ENST00000692638.1:c.136+2026_136+2029del | ENSP00000509412.1:n.136+2026_136+2029del | |
| ENST00000692852.1:c.141_144del | ENSP00000510337.1:p.Glu48LeufsTer24 | |
| ENST00000692915.1:c.141_144del | ENSP00000508547.1:p.Glu48LeufsTer24 | |
| ENST00000693422.1:n.202_205del | ||
| ENST00000370396.7:c.141_144del MANE Select | ENSP00000359423.3:p.Glu48LeufsTer24 | |
| ENST00000306167.11:n.180_183del | ||
| ENST00000370396.6:c.141_144del | ENSP00000359423.2:p.Glu48LeufsTer24 | |
| ENST00000424519.1:c.141_144del | ENSP00000400699.1:p.Glu48LeufsTer24 | |
| ENST00000490530.1:n.170+2026_170+2029del | ||
| NM_000252.2:c.141_144del , LRG_839t1:c.141_144del | NP_000243.1:p.Glu48LeufsTer24 | |
| XM_005274687.2:c.141_144del | XP_005274744.1:p.Glu48LeufsTer24 | |
| XM_011531170.1:c.162_165del | XP_011529472.1:p.Glu55LeufsTer24 | |
| XM_011531171.1:c.141_144del | XP_011529473.1:p.Glu48LeufsTer24 | |
| XM_011531172.1:c.141_144del | XP_011529474.1:p.Glu48LeufsTer24 | |
| XM_011531173.1:c.141_144del | XP_011529475.1:p.Glu48LeufsTer24 | |
| XM_011531173.2:c.141_144del | XP_011529475.1:p.Glu48LeufsTer24 | |
| XM_017029547.1:c.141_144del | XP_016885036.1:p.Glu48LeufsTer24 | |
| XM_017029548.1:c.141_144del | XP_016885037.1:p.Glu48LeufsTer24 | |
| XM_017029549.1:c.141_144del | XP_016885038.1:p.Glu48LeufsTer24 | |
| XM_017029550.1:c.141_144del | XP_016885039.1:p.Glu48LeufsTer24 | |
| NM_000252.3:c.141_144del MANE Select | NP_000243.1:p.Glu48LeufsTer24 | |
| NM_001376906.1:c.141_144del | NP_001363835.1:p.Glu48LeufsTer24 | |
| NM_001376907.1:c.141_144del | NP_001363836.1:p.Glu48LeufsTer24 | |
| NM_001376908.1:c.141_144del | NP_001363837.1:p.Glu48LeufsTer24 |