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:
CA89681702
Gene:
Linked Data
dbSNP Id:
rs1046033319
gnomAD v2:
3-186579573-C-CAT
gnomAD v3:
3-186861784-C-CAT
gnomAD v4:
3-186861784-C-CAT
MyVariant Identifiers:
chr3:g.186579573_186579574insAT (hg19)
chr3:g.186861784_186861785insAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186861792_186861793dup , CM000665.2:g.186861792_186861793dup | GRCh38 |
| NC_000003.11:g.186579581_186579582dup , CM000665.1:g.186579581_186579582dup | GRCh37 |
| NC_000003.10:g.188062275_188062276dup | NCBI36 |