Canonical Allele Identifier: CA585068498
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1468450586
gnomAD v2: 8-128413527-G-GTGCAACTC
gnomAD v3: 8-127401282-G-GTGCAACTC
gnomAD v4: 8-127401282-G-GTGCAACTC
MyVariant Identifiers: chr8:g.128413527_128413528insTGCAACTC (hg19) chr8:g.127401282_127401283insTGCAACTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401288_127401295dup , CM000670.2:g.127401288_127401295dup GRCh38
NC_000008.10:g.128413533_128413540dup , CM000670.1:g.128413533_128413540dup GRCh37
NC_000008.9:g.128482715_128482722dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13600_-559-13593dup (POU5F1B) ENSP00000495779.1:n.-559-13600_-559-13593dup
NR_109834.1:n.890_897dup (CCAT2)
NR_117100.1:n.1176+19539_1176+19546dup (CASC8)
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