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:
CA948685804
Gene:
Linked Data
dbSNP Id:
rs72011118
gnomAD v3:
12-66000732-T-TTGTGTGTGTG
gnomAD v4:
12-66000732-T-TTGTGTGTGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66000778_66000787dup , CM000674.2:g.66000778_66000787dup | GRCh38 |
| NC_000012.11:g.66394558_66394567dup , CM000674.1:g.66394558_66394567dup | GRCh37 |
| NC_000012.10:g.64680825_64680834dup | NCBI36 |