WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
88753
dbSNP Id:
rs397518478
MyVariant Identifiers:
chrX:g.73960795dupT (hg19)
chrX:g.73960794_73960795insT (hg19)
chrX:g.74740960dupT (hg38)
chrX:g.74740959_74740960insT (hg38)
PubMed:
PMID:23615299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74740965dup , CM000685.2:g.74740965dup | GRCh38 |
| NC_000023.10:g.73960800dup , CM000685.1:g.73960800dup | GRCh37 |
| NC_000023.9:g.73877525dup | NCBI36 |
| NG_027726.1:g.189493dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000055682.12:c.3597dup MANE Select | ENSP00000055682.5:p.Ser1200IlefsTer5 | |
| ENST00000616200.2:c.3597dup | ENSP00000480284.1:p.Ser1200IlefsTer5 | |
| ENST00000642681.2:c.3597dup | ENSP00000495800.1:p.Ser1200IlefsTer5 | |
| ENST00000055682.10:c.3597dup | ENSP00000055682.5:p.Ser1200IlefsTer5 | |
| ENST00000616200.1:c.3597dup | ENSP00000480284.1:p.Ser1200IlefsTer5 | |
| NM_001008537.2:c.3597dup | NP_001008537.1:p.Ser1200IlefsTer5 | |
| XM_011530935.1:c.3597dup | XP_011529237.1:p.Ser1200IlefsTer5 | |
| NM_001008537.3:c.3597dup MANE Select | NP_001008537.1:p.Ser1200IlefsTer5 |