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:
225891
ClinVar RCV Id:
RCV000211111
dbSNP Id:
rs875989785
PubMed:
PMID:25356970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244054892del , CM000663.2:g.244054892del | GRCh38 |
| NC_000001.10:g.244218194del , CM000663.1:g.244218194del | GRCh37 |
| NC_000001.9:g.242284817del | NCBI36 |
| NG_033841.1:g.10954del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696615.1:c.*295del | ENSP00000512755.1:n.*295del | |
| ENST00000696616.1:c.1091del | ENSP00000512756.1:p.Ser364ThrfsTer26 | |
| ENST00000696617.1:c.*1048del | ENSP00000512757.1:n.*1048del | |
| ENST00000696618.1:c.1091del | ENSP00000512758.1:p.Ser364ThrfsTer26 | |
| ENST00000358704.4:c.1118del MANE Select | ENSP00000351539.4:p.Ser373ThrfsTer26 | |
| ENST00000622512.1:c.1091del | ENSP00000481278.1:p.Ser364ThrfsTer26 | |
| NM_001278196.1:c.1091del | NP_001265125.1:p.Ser364ThrfsTer26 | |
| NM_006352.4:c.1091del | NP_006343.2:p.Ser364ThrfsTer26 | |
| NM_205768.2:c.1118del | NP_991331.1:p.Ser373ThrfsTer26 | |
| XM_005273006.2:c.1091del | XP_005273063.1:p.Ser364ThrfsTer26 | |
| XM_017000060.1:c.1091del | XP_016855549.1:p.Ser364ThrfsTer26 | |
| NM_001278196.2:c.1091del | NP_001265125.1:p.Ser364ThrfsTer26 | |
| NM_205768.3:c.1118del MANE Select | NP_991331.1:p.Ser373ThrfsTer26 |