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:
439116
ClinVar RCV Id:
RCV000506352
dbSNP Id:
rs746988006
ExAC:
16:223511 TC / T
gnomAD v2:
16-223511-TC-T
gnomAD v3:
16-173512-TC-T
gnomAD v4:
16-173512-TC-T
COSMIC:
COSM5688453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173516del , CM000678.2:g.173516del | GRCh38 |
| NC_000016.9:g.223515del , CM000678.1:g.223515del | GRCh37 |
| NC_000016.8:g.163515del | NCBI36 |
| NG_000006.1:g.34379del | |
| NG_059186.1:g.1866del | |
| NG_059271.1:g.5670del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.345del MANE Select | ENSP00000251595.6:p.Ala116ProfsTer18 | |
| ENST00000251595.10:c.345del | ENSP00000251595.6:p.Ala116ProfsTer18 | |
| ENST00000397806.1:c.249del | ENSP00000380908.1:p.Ala84ProfsTer18 | |
| ENST00000482565.1:n.481del | ||
| NM_000517.4:c.345del | NP_000508.1:p.Ala116ProfsTer18 | |
| NM_000517.6:c.345del MANE Select | NP_000508.1:p.Ala116ProfsTer18 |