Canonical Allele Identifier: CA847155352
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1489384109
gnomAD v3: 8-127328751-CTT-C
gnomAD v4: 8-127328751-CTT-C
MyVariant Identifiers: chr8:g.128340997_128340998del (hg19) chr8:g.127328752_127328753del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127328752_127328753del , CM000670.2:g.127328752_127328753del GRCh38
NC_000008.10:g.128340997_128340998del , CM000670.1:g.128340997_128340998del GRCh37
NC_000008.9:g.128410179_128410180del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-715+6526_-715+6527del (POU5F1B) ENSP00000495779.1:n.-715+6526_-715+6527del
NR_117099.1:n.302+6526_302+6527del (CASC21)
NR_117100.1:n.1177-38693_1177-38692del (CASC8)
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