Canonical Allele Identifier: CA563234445
Gene: POU4F3 HGNC NCBI

Linked Data

gnomAD v2: 5-145719599-GA-G
gnomAD v4: 5-146340036-GA-G
MyVariant Identifiers: chr5:g.145719600del (hg19) chr5:g.146340037del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146340037del , CM000667.2:g.146340037del GRCh38
NC_000005.9:g.145719600del , CM000667.1:g.145719600del GRCh37
NC_000005.8:g.145699793del NCBI36
NG_011885.1:g.6014del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646991.2:c.610del MANE Select ENSP00000495718.1:p.Thr204ProfsTer20
ENST00000230732.4:c.610del ENSP00000230732.4:p.Thr204ProfsTer20
NM_002700.2:c.610del NP_002691.1:p.Thr204ProfsTer20
NM_002700.3:c.610del MANE Select NP_002691.1:p.Thr204ProfsTer20
Search 100 bp 5'
Search 100 bp 3'