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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.
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Canonical Allele Identifier:
CA2525791254
Gene: BLK
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.11491513_11491514insAGGGAGGCTGA , CM000670.2:g.11491513_11491514insAGGGAGGCTGA
GRCh38
NC_000008.10:g.11349022_11349023insAGGGAGGCTGA , CM000670.1:g.11349022_11349023insAGGGAGGCTGA
GRCh37
NC_000008.9:g.11386431_11386432insAGGGAGGCTGA
NCBI36
NG_023543.1:g.2502_2503insAGGGAGGCTGA
NG_023543.2:g.2502_2503insAGGGAGGCTGA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696154.2:n.274+4346_274+4347insAGGGAGGCTGA
ENST00000696154.1:c.-91+4346_-91+4347insAGGGAGGCTGA
ENSP00000512445.1:n.-91+4346_-91+4347insAGGGAGGCTGA
ENST00000645242.1:c.-91+4346_-91+4347insAGGGAGGCTGA
ENSP00000494690.1:n.-91+4346_-91+4347insAGGGAGGCTGA
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