Canonical Allele Identifier: CA847155394
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1447957219
gnomAD v3: 8-127328814-A-AAT
gnomAD v4: 8-127328814-A-AAT
MyVariant Identifiers: chr8:g.128341059_128341060insAT (hg19) chr8:g.127328814_127328815insAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127328816_127328817dup , CM000670.2:g.127328816_127328817dup GRCh38
NC_000008.10:g.128341061_128341062dup , CM000670.1:g.128341061_128341062dup GRCh37
NC_000008.9:g.128410243_128410244dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-715+6590_-715+6591dup (POU5F1B) ENSP00000495779.1:n.-715+6590_-715+6591dup
NR_117099.1:n.302+6590_302+6591dup (CASC21)
NR_117100.1:n.1177-38756_1177-38755dup (CASC8)
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