Canonical Allele Identifier: CA1619036565
Gene: POU5F1 HGNC NCBI
PSORS1C3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31175893_31175894delinsGT , CM000668.2:g.31175893_31175894delinsGT GRCh38
NC_000006.11:g.31143670_31143671delinsGT , CM000668.1:g.31143670_31143671delinsGT GRCh37
NC_000006.10:g.31251649_31251650delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-184+4725_-184+4726delinsAC (POU5F1) ENSP00000389359.2:n.-184+4725_-184+4726delinsAC
NR_026816.1:n.262-1624_262-1623delinsAC (PSORS1C3)
NR_026816.2:n.554-1624_554-1623delinsAC (PSORS1C3)
NR_152828.1:n.554-1068_554-1067delinsAC (PSORS1C3)
NR_152829.1:n.615_616delinsAC (PSORS1C3)
NR_152830.1:n.554-1338_554-1337delinsAC (PSORS1C3)
NR_152831.1:n.293-1624_293-1623delinsAC (PSORS1C3)
NR_152832.1:n.414-1624_414-1623delinsAC (PSORS1C3)
NR_152833.1:n.554-1068_554-1067delinsAC (PSORS1C3)
NR_152834.1:n.615_616delinsAC (PSORS1C3)
NR_152835.1:n.293-1861_293-1860delinsAC (PSORS1C3)
NR_152836.1:n.554-1338_554-1337delinsAC (PSORS1C3)
NR_152837.1:n.554-1215_554-1214delinsAC (PSORS1C3)
NR_152838.1:n.615_616delinsAC (PSORS1C3)
NR_152839.1:n.553+1745_553+1746delinsAC (PSORS1C3)