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:
CA530374338
Gene:
Linked Data
dbSNP Id:
rs1241340469
gnomAD v2:
2-632791-T-TGTC
gnomAD v3:
2-632791-T-TGTC
gnomAD v4:
2-632791-T-TGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.632793_632794insCGT , CM000664.2:g.632793_632794insCGT | GRCh38 |
| NC_000002.11:g.632793_632794insCGT , CM000664.1:g.632793_632794insCGT | GRCh37 |
| NC_000002.10:g.622793_622794insCGT | NCBI36 |