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:
CA999780236
Gene:
Linked Data
dbSNP Id:
rs2047844468
gnomAD v3:
1-25800126-A-AGCCCCTGCGGCCGCCCCGCCCC
gnomAD v4:
1-25800126-A-AGCCCCTGCGGCCGCCCCGCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25800127_25800148dup , CM000663.2:g.25800127_25800148dup | GRCh38 |
| NC_000001.10:g.26126618_26126639dup , CM000663.1:g.26126618_26126639dup | GRCh37 |
| NC_000001.9:g.25999205_25999226dup | NCBI36 |
| NG_009930.1:g.4952_4973dup |