Canonical Allele Identifier: CA2677932869
Gene: PSORS1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139468_31139469del , CM000668.2:g.31139468_31139469del GRCh38
NC_000006.11:g.31107245_31107246del , CM000668.1:g.31107245_31107246del GRCh37
NC_000006.10:g.31215224_31215225del NCBI36
NG_021348.1:g.29638_29639del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-173_168-172del MANE Select ENSP00000259881.9:n.168-173_168-172del
ENST00000259881.9:c.168-173_168-172del ENSP00000259881.9:n.168-173_168-172del
ENST00000479581.5:n.62-173_62-172del
ENST00000481450.2:c.-22-173_-22-172del ENSP00000447158.1:n.-22-173_-22-172del
ENST00000547221.1:c.24-173_24-172del ENSP00000449471.1:n.24-173_24-172del
NM_014068.2:c.168-173_168-172del NP_054787.2:n.168-173_168-172del
NM_014068.3:c.168-173_168-172del MANE Select NP_054787.2:n.168-173_168-172del