Canonical Allele Identifier: CA1119008283
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1814141068
gnomAD v3: 8-127343317-A-ATTC
gnomAD v4: 8-127343317-A-ATTC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343317_127343318insTTC , CM000670.2:g.127343317_127343318insTTC GRCh38
NC_000008.10:g.128355563_128355564insTTC , CM000670.1:g.128355563_128355564insTTC GRCh37
NC_000008.9:g.128424745_128424746insTTC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-560+3882_-560+3883insTTC (POU5F1B) ENSP00000495779.1:n.-560+3882_-560+3883insTTC
NR_117099.1:n.457+3882_457+3883insTTC (CASC21)
NR_117100.1:n.1177-53258_1177-53257insGAA (CASC8)
Search 100 bp 5'
Search 100 bp 3'