Canonical Allele Identifier: CA847160744

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs1391097543
• gnomAD v3: 8-127343300-T-TA
• gnomAD v4: 8-127343300-T-TA
• MyVariant Identifiers: chr8:g.128355546_128355547insA (hg19) ; chr8:g.127343300_127343301insA (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645438.1:c.-560+3869dup (POU5F1B)	ENSP00000495779.1:n.-560+3869dup
NR_117099.1:n.457+3869dup (CASC21)
NR_117100.1:n.1177-53241dup (CASC8)