Canonical Allele Identifier: CA185730417
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs536019048
MyVariant Identifiers: chr8:g.128355557_128355558insT (hg19) chr8:g.127343311_127343312insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343311_127343312insT , CM000670.2:g.127343311_127343312insT GRCh38
NC_000008.10:g.128355557_128355558insT , CM000670.1:g.128355557_128355558insT GRCh37
NC_000008.9:g.128424739_128424740insT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3876_-560+3877insT (POU5F1B) ENSP00000495779.1:n.-560+3876_-560+3877insT
NR_117099.1:n.457+3876_457+3877insT (CASC21)
NR_117100.1:n.1177-53252_1177-53251insA (CASC8)
Search 100 bp 5'
Search 100 bp 3'