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:
CA2589220946
Gene:
Linked Data
dbSNP Id:
rs2119602403
gnomAD v3:
10-129467179-T-TCCCCGTGCCCCTCGGCCCCGC
gnomAD v4:
10-129467179-T-TCCCCGTGCCCCTCGGCCCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.129467185_129467205dup , CM000672.2:g.129467185_129467205dup | GRCh38 |
| NC_000010.10:g.131265449_131265469dup , CM000672.1:g.131265449_131265469dup | GRCh37 |
| NC_000010.9:g.131155439_131155459dup | NCBI36 |
| NG_052673.1:g.5002_5022dup |