UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA1058775502
Gene:
Linked Data
dbSNP Id:
rs1248445964
gnomAD v3:
4-4717615-C-CTGTCCCCA
gnomAD v4:
4-4717615-C-CTGTCCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4717634_4717641dup , CM000666.2:g.4717634_4717641dup | GRCh38 |
| NC_000004.11:g.4719361_4719368dup , CM000666.1:g.4719361_4719368dup | GRCh37 |
| NC_000004.10:g.4770262_4770269dup | NCBI36 |