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:
41988
ClinVar RCV Id:
RCV000034855
dbSNP Id:
rs3214759
ExAC:
2:209010777 GC / G
gnomAD v2:
2-209010777-GC-G
gnomAD v3:
2-208146053-GC-G
gnomAD v4:
2-208146053-GC-G
PubMed:
PMID:23288985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208146058del , CM000664.2:g.208146058del | GRCh38 |
| NC_000002.11:g.209010782del , CM000664.1:g.209010782del | GRCh37 |
| NC_000002.10:g.208719027del | NCBI36 |
| NG_028158.1:g.5100del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260988.5:c.10-38del MANE Select | ENSP00000260988.4:n.10-38del | |
| ENST00000260988.4:c.10-38del | ENSP00000260988.4:n.10-38del | |
| NM_005210.3:c.10-38del | NP_005201.2:n.10-38del | |
| NR_038437.1:n.221+8879del | ||
| XM_017003402.1:c.10-38del | XP_016858891.1:n.10-38del | |
| NM_005210.4:c.10-38del MANE Select | NP_005201.2:n.10-38del |