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:
CA1118965024
Gene:
Linked Data
dbSNP Id:
rs1813816402
gnomAD v3:
8-127094457-T-TTATTAACCCCAATGTA
gnomAD v4:
8-127094457-T-TTATTAACCCCAATGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127094460_127094475dup , CM000670.2:g.127094460_127094475dup | GRCh38 |
| NC_000008.10:g.128106705_128106720dup , CM000670.1:g.128106705_128106720dup | GRCh37 |
| NC_000008.9:g.128175887_128175902dup | NCBI36 |