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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:
CA847153594
Gene: POU5F1B
HGNC
NCBI
CCAT2
HGNC
NCBI
CASC8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1352951595
MyVariant Identifiers:
chr8:g.128413076_128413080del (hg19)
chr8:g.127400831_127400835del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127400833_127400837del , CM000670.2:g.127400833_127400837del
GRCh38
NC_000008.10:g.128413078_128413082del , CM000670.1:g.128413078_128413082del
GRCh37
NC_000008.9:g.128482260_128482264del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000645438.1:c.-559-14055_-559-14051del
(POU5F1B)
ENSP00000495779.1:n.-559-14055_-559-14051...
NR_109834.1:n.435_439del
(CCAT2)
NR_117100.1:n.1176+19994_1176+19998del
(CASC8)
Search 100 bp 5'
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