Canonical Allele Identifier: CA2675813839
Gene: POU4F3 HGNC NCBI

Linked Data

gnomAD v4: 5-146339553-G-GCAA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146339553_146339554insCAA , CM000667.2:g.146339553_146339554insCAA GRCh38
NC_000005.9:g.145719116_145719117insCAA , CM000667.1:g.145719116_145719117insCAA GRCh37
NC_000005.8:g.145699309_145699310insCAA NCBI36
NG_011885.1:g.5530_5531insCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.126_127insCAA MANE Select ENSP00000495718.1:p.Gln42_Gly43insGln
ENST00000230732.4:c.126_127insCAA ENSP00000230732.4:p.Gln42_Gly43insGln
NM_002700.2:c.126_127insCAA NP_002691.1:p.Gln42_Gly43insGln
NM_002700.3:c.126_127insCAA MANE Select NP_002691.1:p.Gln42_Gly43insGln
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