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:
102733
dbSNP Id:
rs62507328
PubMed:
PMID:23357515
ERepo:
CA229620/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855289del , CM000674.2:g.102855289del | GRCh38 |
| NC_000012.11:g.103249067del , CM000674.1:g.103249067del | GRCh37 |
| NC_000012.10:g.101773197del | NCBI36 |
| NG_008690.1:g.67317del | |
| NG_008690.2:g.108125del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.556del MANE Select | ENSP00000448059.1:p.Thr186HisfsTer9 | |
| ENST00000307000.7:c.541del | ENSP00000303500.2:p.Thr181HisfsTer9 | |
| ENST00000549111.5:n.652del | ||
| ENST00000551988.5:n.577del | ||
| ENST00000553106.5:c.556del | ENSP00000448059.1:p.Thr186HisfsTer9 | |
| NM_000277.1:c.556del | NP_000268.1:p.Thr186HisfsTer9 | |
| XM_011538422.1:c.556del | XP_011536724.1:p.Thr186HisfsTer9 | |
| NM_000277.2:c.556del | NP_000268.1:p.Thr186HisfsTer9 | |
| NM_001354304.1:c.556del | NP_001341233.1:p.Thr186HisfsTer9 | |
| XM_017019370.2:c.556del | XP_016874859.1:p.Thr186HisfsTer9 | |
| NM_000277.3:c.556del MANE Select | NP_000268.1:p.Thr186HisfsTer9 | |
| NM_001354304.2:c.556del | NP_001341233.1:p.Thr186HisfsTer9 |