Canonical Allele Identifier: CA1119008321
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814141409
gnomAD v3: 8-127343326-A-ATCTTTTTTT
gnomAD v4: 8-127343326-A-ATCTTTTTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343327_127343328insCTTTTTTTT , CM000670.2:g.127343327_127343328insCTTTTTTTT GRCh38
NC_000008.10:g.128355573_128355574insCTTTTTTTT , CM000670.1:g.128355573_128355574insCTTTTTTTT GRCh37
NC_000008.9:g.128424755_128424756insCTTTTTTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3892_-560+3893insCTTTTTTTT (POU5F1B) ENSP00000495779.1:n.-560+3892_-560+3893insCTTTTTTTT
NR_117099.1:n.457+3892_457+3893insCTTTTTTTT (CASC21)
NR_117100.1:n.1177-53267_1177-53266insAAAAAAAGA (CASC8)
Search 100 bp 5'
Search 100 bp 3'