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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
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Canonical Allele Identifier:
CA1818352015
Gene: POU5F1B
HGNC
NCBI
CCAT2
HGNC
NCBI
CASC8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127400830_127400835delinsTGCATC , CM000670.2:g.127400830_127400835delinsTGCATC
GRCh38
NC_000008.10:g.128413075_128413080delinsTGCATC , CM000670.1:g.128413075_128413080delinsTGCATC
GRCh37
NC_000008.9:g.128482257_128482262delinsTGCATC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000645438.1:c.-559-14058_-559-14053delinsTGCATC
(POU5F1B)
ENSP00000495779.1:n.-559-14058_-559-14053delinsTGCATC
NR_109834.1:n.432_437delinsTGCATC
(CCAT2)
NR_117100.1:n.1176+19994_1176+19999delinsGATGCA
(CASC8)
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