Canonical Allele Identifier: CA1619036455
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175601_31175602delinsGT , CM000668.2:g.31175601_31175602delinsGT GRCh38
NC_000006.11:g.31143378_31143379delinsGT , CM000668.1:g.31143378_31143379delinsGT GRCh37
NC_000006.10:g.31251357_31251358delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+5017_-184+5018delinsAC (POU5F1) ENSP00000389359.2:n.-184+5017_-184+5018delinsAC
NR_026816.1:n.262-1332_262-1331delinsAC (PSORS1C3)
NR_026816.2:n.554-1332_554-1331delinsAC (PSORS1C3)
NR_152828.1:n.554-776_554-775delinsAC (PSORS1C3)
NR_152829.1:n.820+87_820+88delinsAC (PSORS1C3)
NR_152830.1:n.554-1046_554-1045delinsAC (PSORS1C3)
NR_152831.1:n.293-1332_293-1331delinsAC (PSORS1C3)
NR_152832.1:n.414-1332_414-1331delinsAC (PSORS1C3)
NR_152833.1:n.554-776_554-775delinsAC (PSORS1C3)
NR_152834.1:n.820+87_820+88delinsAC (PSORS1C3)
NR_152835.1:n.293-1569_293-1568delinsAC (PSORS1C3)
NR_152836.1:n.554-1046_554-1045delinsAC (PSORS1C3)
NR_152837.1:n.554-923_554-922delinsAC (PSORS1C3)
NR_152838.1:n.820+87_820+88delinsAC (PSORS1C3)
NR_152839.1:n.554-1569_554-1568delinsAC (PSORS1C3)
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