Canonical Allele Identifier: CA2677930610
Gene: PSORS1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125686del , CM000668.2:g.31125686del GRCh38
NC_000006.11:g.31093463del , CM000668.1:g.31093463del GRCh37
NC_000006.10:g.31201442del NCBI36
NG_021348.1:g.15856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-218del MANE Select ENSP00000259881.9:n.-218del
ENST00000259881.9:c.-218del ENSP00000259881.9:n.-218del
ENST00000479581.5:n.61+10795del
ENST00000548049.1:n.127del
ENST00000550838.1:n.59-53del
ENST00000552747.1:n.53+10795del
NM_014068.2:c.-218del NP_054787.2:n.-218del
NM_014068.3:c.-218del MANE Select NP_054787.2:n.-218del