Canonical Allele Identifier: CA2578641132
Gene: POU4F3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340146_146340148del , CM000667.2:g.146340146_146340148del GRCh38
NC_000005.9:g.145719709_145719711del , CM000667.1:g.145719709_145719711del GRCh37
NC_000005.8:g.145699902_145699904del NCBI36
NG_011885.1:g.6123_6125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.719_721del MANE Select ENSP00000495718.1:p.Asn240del
ENST00000230732.4:c.719_721del ENSP00000230732.4:p.Asn240del
NM_002700.2:c.719_721del NP_002691.1:p.Asn240del
NM_002700.3:c.719_721del MANE Select NP_002691.1:p.Asn240del
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