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.
Canonical Allele Identifier:
CA557990636
Gene:
Linked Data
dbSNP Id:
rs1200625368
gnomAD v2:
5-13242996-G-GAAAA
gnomAD v3:
5-13242884-G-GAAAA
gnomAD v4:
5-13242884-G-GAAAA
MyVariant Identifiers:
chr5:g.13242996_13242997insAAAA (hg19)
chr5:g.13242884_13242885insAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13242885_13242886insAAAA , CM000667.2:g.13242885_13242886insAAAA | GRCh38 |
| NC_000005.9:g.13242997_13242998insAAAA , CM000667.1:g.13242997_13242998insAAAA | GRCh37 |
| NC_000005.8:g.13295997_13295998insAAAA | NCBI36 |