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:
CA625300562
Gene:
Linked Data
gnomAD v2:
17-17544589-C-CAAA
gnomAD v3:
17-17641275-C-CAAA
gnomAD v4:
17-17641275-C-CAAA
MyVariant Identifiers:
chr17:g.17544593_17544594insAAA (hg19)
chr17:g.17641279_17641280insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17641294_17641296dup , CM000679.2:g.17641294_17641296dup | GRCh38 |
| NC_000017.10:g.17544608_17544610dup , CM000679.1:g.17544608_17544610dup | GRCh37 |
| NC_000017.9:g.17485333_17485335dup | NCBI36 |