Canonical Allele Identifier: CA1818352834
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401524_127401525delinsGT , CM000670.2:g.127401524_127401525delinsGT GRCh38
NC_000008.10:g.128413769_128413770delinsGT , CM000670.1:g.128413769_128413770delinsGT GRCh37
NC_000008.9:g.128482951_128482952delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13364_-559-13363delinsGT (POU5F1B) ENSP00000495779.1:n.-559-13364_-559-13363delinsGT
NR_109834.1:n.1126_1127delinsGT (CCAT2)
NR_117100.1:n.1176+19304_1176+19305delinsAC (CASC8)
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