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:
CA779991424
Gene:
Linked Data
dbSNP Id:
rs1415693533
gnomAD v3:
18-49001813-T-TGCA
gnomAD v4:
18-49001813-T-TGCA
MyVariant Identifiers:
chr18:g.46528183_46528184insGCA (hg19)
chr18:g.49001813_49001814insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49001814_49001815insCAG , CM000680.2:g.49001814_49001815insCAG | GRCh38 |
| NC_000018.9:g.46528184_46528185insCAG , CM000680.1:g.46528184_46528185insCAG | GRCh37 |
| NC_000018.8:g.44782182_44782183insCAG | NCBI36 |