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:
372229
ClinVar RCV Id:
RCV000412605
dbSNP Id:
rs1057517682
gnomAD v4:
1-17401359-CAG-C
MyVariant Identifiers:
chr1:g.17727858_17727859del (hg19)
chr1:g.17401362_17401363del (hg38)
chr1:g.17401360_17401361del (hg38)
PubMed:
PMID:27545678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401362_17401363del , CM000663.2:g.17401362_17401363del | GRCh38 |
| NC_000001.10:g.17727858_17727859del , CM000663.1:g.17727858_17727859del | GRCh37 |
| NC_000001.9:g.17600445_17600446del | NCBI36 |
| NG_032943.1:g.34117_34118del | |
| NG_032943.2:g.34117_34118del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.2009_2010del MANE Select | ENSP00000483125.1:p.Glu670GlyfsTer? | |
| NM_207421.4:c.2009_2010del MANE Select | NP_997304.3:p.Glu670GlyfsTer? |