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:
208841
ClinVar RCV Id:
RCV000190861
dbSNP Id:
rs797045134
PubMed:
PMID:22541558
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927241del , CM000663.2:g.149927241del | GRCh38 |
| NC_000001.10:g.149899133del , CM000663.1:g.149899133del | GRCh37 |
| NC_000001.9:g.148165757del | NCBI36 |
| NG_032777.1:g.6012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271628.9:c.88del MANE Select | ENSP00000271628.8:p.Trp30GlyfsTer10 | |
| ENST00000271628.8:c.88del | ENSP00000271628.8:p.Trp30GlyfsTer10 | |
| ENST00000457312.1:c.-42del | ENSP00000391114.1:n.-42del | |
| NM_005850.4:c.88del | NP_005841.1:p.Trp30GlyfsTer10 | |
| NM_005850.5:c.88del MANE Select | NP_005841.1:p.Trp30GlyfsTer10 |