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:
CA608189848
Gene:
Linked Data
dbSNP Id:
rs1404725274
gnomAD v2:
12-131356078-C-CCATT
gnomAD v3:
12-130871533-C-CCATT
gnomAD v4:
12-130871533-C-CCATT
MyVariant Identifiers:
chr12:g.131356078_131356079insCATT (hg19)
chr12:g.130871533_130871534insCATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130871547_130871550dup , CM000674.2:g.130871547_130871550dup | GRCh38 |
| NC_000012.11:g.131356092_131356095dup , CM000674.1:g.131356092_131356095dup | GRCh37 |
| NC_000012.10:g.129922045_129922048dup | NCBI36 |