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:
CA596790012
Gene:
Linked Data
dbSNP Id:
rs1167069664
gnomAD v2:
11-641125-C-CCTGT
gnomAD v3:
11-641125-C-CCTGT
gnomAD v4:
11-641125-C-CCTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.641127_641130dup , CM000673.2:g.641127_641130dup | GRCh38 |
| NC_000011.9:g.641127_641130dup , CM000673.1:g.641127_641130dup | GRCh37 |
| NC_000011.8:g.631127_631130dup | NCBI36 |
| NG_021241.1:g.8823_8826dup |