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:
CA982866090
Gene:
Linked Data
gnomAD v3:
17-30237270-C-CTGCAGGGGGGATGCTGGGGG
gnomAD v4:
17-30237270-C-CTGCAGGGGGGATGCTGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237279_30237298dup , CM000679.2:g.30237279_30237298dup | GRCh38 |
| NC_000017.10:g.28564297_28564316dup , CM000679.1:g.28564297_28564316dup | GRCh37 |
| NC_000017.9:g.25588423_25588442dup | NCBI36 |
| NG_011747.2:g.3647_3666dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_934654.1:n.165+209_165+228dup | ||
| XR_001752824.1:n.280+209_280+228dup |