Canonical Allele Identifier: CA1139667684
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 988287
ClinVar RCV Id: RCV001269539
dbSNP Id: rs1925845195
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508990_83508991del , CM000685.2:g.83508990_83508991del GRCh38
NC_000023.10:g.82763998_82763999del , CM000685.1:g.82763998_82763999del GRCh37
NC_000023.9:g.82650654_82650655del NCBI36
NG_009936.2:g.5730_5731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.666_667del MANE Select ENSP00000495996.1:p.Tyr223TrpfsTer2
ENST00000373200.4:c.666_667del ENSP00000362296.2:p.Tyr223TrpfsTer2
NM_000307.4:c.666_667del NP_000298.3:p.Tyr223TrpfsTer2
NM_000307.5:c.666_667del MANE Select NP_000298.3:p.Tyr223TrpfsTer2
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