Canonical Allele Identifier: CA2677930919
Gene: PSORS1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125864del , CM000668.2:g.31125864del GRCh38
NC_000006.11:g.31093641del , CM000668.1:g.31093641del GRCh37
NC_000006.10:g.31201620del NCBI36
NG_021348.1:g.16034del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-65+25del MANE Select ENSP00000259881.9:n.-65+25del
ENST00000259881.9:c.-65+25del ENSP00000259881.9:n.-65+25del
ENST00000479581.5:n.61+10973del
ENST00000548049.1:n.280+25del
ENST00000550838.1:n.159+25del
ENST00000552747.1:n.53+10973del
NM_014068.2:c.-65+25del NP_054787.2:n.-65+25del
NM_014068.3:c.-65+25del MANE Select NP_054787.2:n.-65+25del