Canonical Allele Identifier: CA1119008319
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814141377
gnomAD v3: 8-127343323-GGAA-G
gnomAD v4: 8-127343323-GGAA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343324_127343326del , CM000670.2:g.127343324_127343326del GRCh38
NC_000008.10:g.128355570_128355572del , CM000670.1:g.128355570_128355572del GRCh37
NC_000008.9:g.128424752_128424754del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3889_-560+3891del (POU5F1B) ENSP00000495779.1:n.-560+3889_-560+3891del
NR_117099.1:n.457+3889_457+3891del (CASC21)
NR_117100.1:n.1177-53266_1177-53264del (CASC8)
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