Canonical Allele Identifier: CA585063559
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

gnomAD v2: 8-128355551-T-TAAAAAAAAAAA
gnomAD v3: 8-127343305-T-TAAAAAAAAAAA
gnomAD v4: 8-127343305-T-TAAAAAAAAAAA
MyVariant Identifiers: chr8:g.128355552_128355553insAAAAAAAAAAA (hg19) chr8:g.127343306_127343307insAAAAAAAAAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343315_127343316insAAAAAAAAAAA , CM000670.2:g.127343315_127343316insAAAAAAAAAAA GRCh38
NC_000008.10:g.128355561_128355562insAAAAAAAAAAA , CM000670.1:g.128355561_128355562insAAAAAAAAAAA GRCh37
NC_000008.9:g.128424743_128424744insAAAAAAAAAAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3880_-560+3881insAAAAAAAAAAA (POU5F1B) ENSP00000495779.1:n.-560+3880_-560+3881insAAAAAAAAAAA
NR_117099.1:n.457+3880_457+3881insAAAAAAAAAAA (CASC21)
NR_117100.1:n.1177-53246_1177-53245insTTTTTTTTTTT (CASC8)
Search 100 bp 5'
Search 100 bp 3'