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:
CA559271207
Gene:
Linked Data
dbSNP Id:
rs1561056627
gnomAD v2:
5-40414973-G-GTGGTGGTGGTT
gnomAD v3:
5-40414871-G-GTGGTGGTGGTT
gnomAD v4:
5-40414871-G-GTGGTGGTGGTT
MyVariant Identifiers:
chr5:g.40414973_40414974insTGGTGGTGGTT (hg19)
chr5:g.40414871_40414872insTGGTGGTGGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40414871_40414872insTGGTGGTGGTT , CM000667.2:g.40414871_40414872insTGGTGGTGGTT | GRCh38 |
| NC_000005.9:g.40414973_40414974insTGGTGGTGGTT , CM000667.1:g.40414973_40414974insTGGTGGTGGTT | GRCh37 |
| NC_000005.8:g.40450730_40450731insTGGTGGTGGTT | NCBI36 |