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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:
CA2561569132
Gene: POU4F3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.146339919_146339920del , CM000667.2:g.146339919_146339920del
GRCh38
NC_000005.9:g.145719482_145719483del , CM000667.1:g.145719482_145719483del
GRCh37
NC_000005.8:g.145699675_145699676del
NCBI36
NG_011885.1:g.5896_5897del
Transcript Alleles
HGVS
Amino-acid change
ENST00000646991.2:c.492_493del
MANE Select
ENSP00000495718.1:p.Thr166ArgfsTer5
ENST00000230732.4:c.492_493del
ENSP00000230732.4:p.Thr166ArgfsTer5
NM_002700.2:c.492_493del
NP_002691.1:p.Thr166ArgfsTer5
NM_002700.3:c.492_493del
MANE Select
NP_002691.1:p.Thr166ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'