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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2718331030
Gene: POU5F1B
HGNC
NCBI
CASC21
HGNC
NCBI
CASC8
HGNC
NCBI
Linked Data
dbSNP Id:
rs2130558760
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127343319_127343320del , CM000670.2:g.127343319_127343320del
GRCh38
NC_000008.10:g.128355565_128355566del , CM000670.1:g.128355565_128355566del
GRCh37
NC_000008.9:g.128424747_128424748del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000645438.1:c.-560+3884_-560+3885del
(POU5F1B)
ENSP00000495779.1:n.-560+3884_-560+3885del
NR_117099.1:n.457+3884_457+3885del
(CASC21)
NR_117100.1:n.1177-53258_1177-53257del
(CASC8)
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