Canonical Allele Identifier: CA2770499472
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125611del , CM000668.2:g.31125611del GRCh38
NC_000006.11:g.31093388del , CM000668.1:g.31093388del GRCh37
NC_000006.10:g.31201367del NCBI36
NG_021348.1:g.15781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-65del MANE Select ENSP00000259881.9:n.-228-65del
ENST00000259881.9:c.-228-65del ENSP00000259881.9:n.-228-65del
ENST00000479581.5:n.61+10720del
ENST00000548049.1:n.120-68del
ENST00000550838.1:n.59-128del
ENST00000552747.1:n.53+10720del
NM_014068.2:c.-228-65del NP_054787.2:n.-228-65del
NM_014068.3:c.-228-65del MANE Select NP_054787.2:n.-228-65del