Canonical Allele Identifier: CA185730414
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs34796978
gnomAD v2: 8-128355551-T-TA
gnomAD v3: 8-127343305-T-TA
gnomAD v4: 8-127343305-T-TA
MyVariant Identifiers: chr8:g.128355555_128355556insA (hg19) chr8:g.128355552_128355553insA (hg19) chr8:g.128355551_128355552insA (hg19) chr8:g.127343309_127343310insA (hg38) chr8:g.127343306_127343307insA (hg38) chr8:g.127343305_127343306insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343315dup , CM000670.2:g.127343315dup GRCh38
NC_000008.10:g.128355561dup , CM000670.1:g.128355561dup GRCh37
NC_000008.9:g.128424743dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3880dup (POU5F1B) ENSP00000495779.1:n.-560+3880dup
NR_117099.1:n.457+3880dup (CASC21)
NR_117100.1:n.1177-53246dup (CASC8)
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