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:
CA548469310
Gene:
Linked Data
dbSNP Id:
rs1450184661
gnomAD v2:
3-186579615-A-ATT
gnomAD v3:
3-186861826-A-ATT
gnomAD v4:
3-186861826-A-ATT
MyVariant Identifiers:
chr3:g.186579617_186579618insTT (hg19)
chr3:g.186861828_186861829insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186861828_186861829dup , CM000665.2:g.186861828_186861829dup | GRCh38 |
| NC_000003.11:g.186579617_186579618dup , CM000665.1:g.186579617_186579618dup | GRCh37 |
| NC_000003.10:g.188062311_188062312dup | NCBI36 |