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:
15872
ClinVar RCV Id:
RCV000017218
dbSNP Id:
rs63750122
PubMed:
PMID:9488635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176990_177013del , CM000678.2:g.176990_177013del | GRCh38 |
| NC_000016.9:g.226989_227012del , CM000678.1:g.226989_227012del | GRCh37 |
| NC_000016.8:g.166989_167012del | NCBI36 |
| NG_000006.1:g.37853_37876del | |
| NG_059186.1:g.5340_5363del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.157_180del MANE Select | ENSP00000322421.5:p.Ser53_Gly60del | |
| ENST00000397797.1:c.61_84del | ENSP00000380899.1:p.Ser21_Gly28del | |
| ENST00000472694.1:n.293_316del | ||
| ENST00000487791.1:n.126_149del | ||
| NM_000558.4:c.157_180del | NP_000549.1:p.Ser53_Gly60del | |
| NM_000558.5:c.157_180del MANE Select | NP_000549.1:p.Ser53_Gly60del |