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:
52158
ClinVar RCV Id:
RCV000240978
dbSNP Id:
rs397507877
PubMed:
PMID:22798144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32341043del , CM000675.2:g.32341043del | GRCh38 |
| NC_000013.10:g.32915180del , CM000675.1:g.32915180del | GRCh37 |
| NC_000013.9:g.31813180del | NCBI36 |
| NG_012772.3:g.30564del , LRG_293:g.30564del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.6688del | ENSP00000434898.2:p.Ile2230LeufsTer11 | |
| ENST00000528762.2:c.6688del | ENSP00000433168.2:p.Ile2230LeufsTer11 | |
| ENST00000530893.7:c.6319del | ENSP00000499438.2:p.Ile2107LeufsTer11 | |
| ENST00000665585.2:c.6688del | ENSP00000499570.2:p.Ile2230LeufsTer11 | |
| ENST00000666593.2:c.6688del | ENSP00000499256.2:p.Ile2230LeufsTer11 | |
| ENST00000700202.2:c.6688del | ENSP00000514856.2:p.Ile2230LeufsTer11 | |
| ENST00000380152.8:c.6688del MANE Select | ENSP00000369497.3:p.Ile2230LeufsTer11 | |
| ENST00000544455.6:c.6688del | ENSP00000439902.1:p.Ile2230LeufsTer11 | |
| ENST00000614259.2:c.6688del | ENSP00000506251.1:p.Ile2230LeufsTer11 | |
| ENST00000680887.1:c.6688del | ENSP00000505508.1:p.Ile2230LeufsTer11 | |
| ENST00000380152.7:c.6688del | ENSP00000369497.3:p.Ile2230LeufsTer11 | |
| ENST00000544455.5:c.6688del | ENSP00000439902.1:p.Ile2230LeufsTer11 | |
| ENST00000614259.1:n.6688del | ||
| NM_000059.3:c.6688del , LRG_293t1:c.6688del | NP_000050.2:p.Ile2230LeufsTer11 | |
| XM_011535203.1:c.6688del | XP_011533505.1:p.Ile2230LeufsTer11 | |
| XM_011535204.1:c.6688del | XP_011533506.1:p.Ile2230LeufsTer11 | |
| XM_011535205.1:c.6688del | XP_011533507.1:p.Ile2230LeufsTer11 | |
| NM_000059.4:c.6688del MANE Select | NP_000050.3:p.Ile2230LeufsTer11 |