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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:
CA261368
Gene: POU3F4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43352
ClinVar RCV Id:
RCV000036260
RCV001004804
dbSNP Id:
rs397516336
MyVariant Identifiers:
chrX:g.82764185_82764186del (hg19)
chrX:g.83509177_83509178del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83509177_83509178del , CM000685.2:g.83509177_83509178del
GRCh38
NC_000023.10:g.82764185_82764186del , CM000685.1:g.82764185_82764186del
GRCh37
NC_000023.9:g.82650841_82650842del
NCBI36
NG_009936.2:g.5917_5918del
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.853_854del
MANE Select
ENSP00000495996.1:p.Ile285ArgfsTer?
ENST00000373200.4:c.853_854del
ENSP00000362296.2:p.Ile285ArgfsTer?
NM_000307.4:c.853_854del
NP_000298.3:p.Ile285ArgfsTer?
NM_000307.5:c.853_854del
MANE Select
NP_000298.3:p.Ile285ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'