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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:
CA658824643
Gene: POU3F4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
560726
ClinVar RCV Id:
RCV000678987
dbSNP Id:
rs1569280138
MyVariant Identifiers:
chrX:g.82763581dup (hg19)
chrX:g.83508573dup (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83508573dup , CM000685.2:g.83508573dup
GRCh38
NC_000023.10:g.82763581dup , CM000685.1:g.82763581dup
GRCh37
NC_000023.9:g.82650237dup
NCBI36
NG_009936.2:g.5313dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.249dup
MANE Select
ENSP00000495996.1:p.Gly84ArgfsTer26
ENST00000373200.4:c.249dup
ENSP00000362296.2:p.Gly84ArgfsTer26
NM_000307.4:c.249dup
NP_000298.3:p.Gly84ArgfsTer26
NM_000307.5:c.249dup
MANE Select
NP_000298.3:p.Gly84ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'