Canonical Allele Identifier: CA185730416
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs141683454
gnomAD v2: 8-128355555-A-AT
gnomAD v3: 8-127343309-A-AT
gnomAD v4: 8-127343309-A-AT
MyVariant Identifiers: chr8:g.128355555_128355556insT (hg19) chr8:g.127343309_127343310insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343309_127343310insT , CM000670.2:g.127343309_127343310insT GRCh38
NC_000008.10:g.128355555_128355556insT , CM000670.1:g.128355555_128355556insT GRCh37
NC_000008.9:g.128424737_128424738insT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3874_-560+3875insT (POU5F1B) ENSP00000495779.1:n.-560+3874_-560+3875insT
NR_117099.1:n.457+3874_457+3875insT (CASC21)
NR_117100.1:n.1177-53250_1177-53249insA (CASC8)
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