Canonical Allele Identifier: CA585068584
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1347409279
gnomAD v2: 8-128413692-TTC-T
gnomAD v3: 8-127401447-TTC-T
gnomAD v4: 8-127401447-TTC-T
MyVariant Identifiers: chr8:g.128413693_128413694del (hg19) chr8:g.127401448_127401449del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401449_127401450del , CM000670.2:g.127401449_127401450del GRCh38
NC_000008.10:g.128413694_128413695del , CM000670.1:g.128413694_128413695del GRCh37
NC_000008.9:g.128482876_128482877del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13439_-559-13438del (POU5F1B) ENSP00000495779.1:n.-559-13439_-559-13438del
NR_109834.1:n.1051_1052del (CCAT2)
NR_117100.1:n.1176+19380_1176+19381del (CASC8)
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