Canonical Allele Identifier: CA185736855

Gene: POU5F1B CCAT2 CASC8

Linked Data

• dbSNP Id: rs909371856
• gnomAD v2: 8-128413344-CTTTAT-C
• gnomAD v3: 8-127401099-CTTTAT-C
• gnomAD v4: 8-127401099-CTTTAT-C
• MyVariant Identifiers: chr8:g.128413345_128413349del (hg19) ; chr8:g.127401100_127401104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127401110_127401114del , CM000670.2:g.127401110_127401114del	GRCh38
NC_000008.10:g.128413355_128413359del , CM000670.1:g.128413355_128413359del	GRCh37
NC_000008.9:g.128482537_128482541del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000645438.1:c.-559-13778_-559-13774del (POU5F1B)	ENSP00000495779.1:n.-559-13778_-559-13774...
NR_109834.1:n.712_716del (CCAT2)
NR_117100.1:n.1176+19725_1176+19729del (CASC8)