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:
987759
ClinVar RCV Id:
RCV001269051
dbSNP Id:
rs1875371722
gnomAD v4:
12-102855290-CT-C
ERepo:
CA16020815/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855294del , CM000674.2:g.102855294del | GRCh38 |
| NC_000012.11:g.103249072del , CM000674.1:g.103249072del | GRCh37 |
| NC_000012.10:g.101773202del | NCBI36 |
| NG_008690.1:g.67312del | |
| NG_008690.2:g.108120del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.551del MANE Select | ENSP00000448059.1:p.Lys184ArgfsTer11 | |
| ENST00000307000.7:c.536del | ENSP00000303500.2:p.Lys179ArgfsTer11 | |
| ENST00000549111.5:n.647del | ||
| ENST00000551988.5:n.572del | ||
| ENST00000553106.5:c.551del | ENSP00000448059.1:p.Lys184ArgfsTer11 | |
| NM_000277.1:c.551del | NP_000268.1:p.Lys184ArgfsTer11 | |
| XM_011538422.1:c.551del | XP_011536724.1:p.Lys184ArgfsTer11 | |
| NM_000277.2:c.551del | NP_000268.1:p.Lys184ArgfsTer11 | |
| NM_001354304.1:c.551del | NP_001341233.1:p.Lys184ArgfsTer11 | |
| XM_017019370.2:c.551del | XP_016874859.1:p.Lys184ArgfsTer11 | |
| NM_000277.3:c.551del MANE Select | NP_000268.1:p.Lys184ArgfsTer11 | |
| NM_001354304.2:c.551del | NP_001341233.1:p.Lys184ArgfsTer11 |