Canonical Allele Identifier: CA1119008256
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814140770
gnomAD v3: 8-127343304-A-AGAG
gnomAD v4: 8-127343304-A-AGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343304_127343305insGAG , CM000670.2:g.127343304_127343305insGAG GRCh38
NC_000008.10:g.128355550_128355551insGAG , CM000670.1:g.128355550_128355551insGAG GRCh37
NC_000008.9:g.128424732_128424733insGAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3869_-560+3870insGAG (POU5F1B) ENSP00000495779.1:n.-560+3869_-560+3870insGAG
NR_117099.1:n.457+3869_457+3870insGAG (CASC21)
NR_117100.1:n.1177-53245_1177-53244insCTC (CASC8)
Search 100 bp 5'
Search 100 bp 3'