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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:
CA2695234632
Gene: POU3F4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83509176del , CM000685.2:g.83509176del
GRCh38
NC_000023.10:g.82764184del , CM000685.1:g.82764184del
GRCh37
NC_000023.9:g.82650840del
NCBI36
NG_009936.2:g.5916del
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.852del
MANE Select
ENSP00000495996.1:p.Ile285SerfsTer3
ENST00000373200.4:c.852del
ENSP00000362296.2:p.Ile285SerfsTer3
NM_000307.4:c.852del
NP_000298.3:p.Ile285SerfsTer3
NM_000307.5:c.852del
MANE Select
NP_000298.3:p.Ile285SerfsTer3
Search 100 bp 5'
Search 100 bp 3'