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:
CA943274917
Gene:
Linked Data
dbSNP Id:
rs1949496740
gnomAD v3:
11-126160539-G-GGGCAGCAGGACGGAGGGCCA
gnomAD v4:
11-126160539-G-GGGCAGCAGGACGGAGGGCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126160545_126160564dup , CM000673.2:g.126160545_126160564dup | GRCh38 |
| NC_000011.9:g.126030440_126030459dup , CM000673.1:g.126030440_126030459dup | GRCh37 |
| NC_000011.8:g.125535650_125535669dup | NCBI36 |