Canonical Allele Identifier: CA2677945008
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Linked Data

gnomAD v4: 6-31174374-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31174377del , CM000668.2:g.31174377del GRCh38
NC_000006.11:g.31142154del , CM000668.1:g.31142154del GRCh37
NC_000006.10:g.31250133del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+6244del (POU5F1) ENSP00000389359.2:n.-184+6244del
NR_026816.1:n.262-105del (PSORS1C3)
NR_026816.2:n.554-105del (PSORS1C3)
NR_152828.1:n.770+151del (PSORS1C3)
NR_152829.1:n.851+151del (PSORS1C3)
NR_152830.1:n.585-105del (PSORS1C3)
NR_152831.1:n.293-105del (PSORS1C3)
NR_152832.1:n.414-105del (PSORS1C3)
NR_152833.1:n.771-105del (PSORS1C3)
NR_152834.1:n.1038-105del (PSORS1C3)
NR_152835.1:n.293-342del (PSORS1C3)
NR_152836.1:n.584+151del (PSORS1C3)
NR_152837.1:n.624-105del (PSORS1C3)
NR_152838.1:n.821-342del (PSORS1C3)
NR_152839.1:n.554-342del (PSORS1C3)
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