WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating causes of recent periodic unresponsiveness in the Registry.
Replication attempts using the same requests and database clones have been unsuccessful.
There is a high correlation with protein alleles. And with haplotype HGVS queries.
While the deficiencies are investigated and fixed, such lookups are disabled.
This temporarily affects the API and the UI.
We are investigating causes of recent periodic unresponsiveness in the Registry.
Replication attempts using the same requests and database clones have been unsuccessful.
There is a high correlation with protein alleles. And with haplotype HGVS queries.
While the deficiencies are investigated and fixed, such lookups are disabled.
This temporarily affects the API and the UI.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107425A= , CM000674.2:g.91107425A= | GRCh38 |
| NC_000012.11:g.91501202A= , CM000674.1:g.91501202A= | GRCh37 |
| NC_000012.10:g.90025333A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266718.5:c.862+693T= MANE Select | ENSP00000266718.4:n.862+693T= | |
| ENST00000266718.4:c.862+693T= | ENSP00000266718.4:n.862+693T= | |
| ENST00000546642.1:n.612+693T= | ||
| ENST00000548071.1:n.255+693T= | ||
| NM_002345.3:c.862+693T= | NP_002336.1:n.862+693T= | |
| NM_002345.4:c.862+693T= MANE Select | NP_002336.1:n.862+693T= |