Canonical Allele Identifier: CA585068586
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1458302165
gnomAD v2: 8-128413732-AAATGTACAAGG-A
gnomAD v3: 8-127401487-AAATGTACAAGG-A
gnomAD v4: 8-127401487-AAATGTACAAGG-A
MyVariant Identifiers: chr8:g.128413733_128413743del (hg19) chr8:g.127401488_127401498del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401492_127401502del , CM000670.2:g.127401492_127401502del GRCh38
NC_000008.10:g.128413737_128413747del , CM000670.1:g.128413737_128413747del GRCh37
NC_000008.9:g.128482919_128482929del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13396_-559-13386del (POU5F1B) ENSP00000495779.1:n.-559-13396_-559-13386del
NR_109834.1:n.1094_1104del (CCAT2)
NR_117100.1:n.1176+19331_1176+19341del (CASC8)
Search 100 bp 5'
Search 100 bp 3'