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:
CA530375767
Gene:
Linked Data
dbSNP Id:
rs1270247356
gnomAD v2:
2-646593-A-AAGTG
gnomAD v3:
2-646593-A-AAGTG
gnomAD v4:
2-646593-A-AAGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.646593_646594insAGTG , CM000664.2:g.646593_646594insAGTG | GRCh38 |
| NC_000002.11:g.646593_646594insAGTG , CM000664.1:g.646593_646594insAGTG | GRCh37 |
| NC_000002.10:g.636593_636594insAGTG | NCBI36 |