Canonical Allele Identifier: CA847160757

Gene: POU5F1B CASC21 CASC8

Linked Data

• dbSNP Id: rs34796978
• gnomAD v3: 8-127343305-TAA-T
• gnomAD v4: 8-127343305-TAA-T
• MyVariant Identifiers: chr8:g.128355552_128355553del (hg19) ; chr8:g.127343306_127343307del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127343314_127343315del , CM000670.2:g.127343314_127343315del	GRCh38
NC_000008.10:g.128355560_128355561del , CM000670.1:g.128355560_128355561del	GRCh37
NC_000008.9:g.128424742_128424743del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-560+3879_-560+3880del (POU5F1B)	ENSP00000495779.1:n.-560+3879_-560+3880de...
NR_117099.1:n.457+3879_457+3880del (CASC21)
NR_117100.1:n.1177-53247_1177-53246del (CASC8)