Canonical Allele Identifier: CA2770499478
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125649dup , CM000668.2:g.31125649dup GRCh38
NC_000006.11:g.31093426dup , CM000668.1:g.31093426dup GRCh37
NC_000006.10:g.31201405dup NCBI36
NG_021348.1:g.15819dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-27dup MANE Select ENSP00000259881.9:n.-228-27dup
ENST00000259881.9:c.-228-27dup ENSP00000259881.9:n.-228-27dup
ENST00000479581.5:n.61+10758dup
ENST00000548049.1:n.120-30dup
ENST00000550838.1:n.59-90dup
ENST00000552747.1:n.53+10758dup
NM_014068.2:c.-228-27dup NP_054787.2:n.-228-27dup
NM_014068.3:c.-228-27dup MANE Select NP_054787.2:n.-228-27dup