Canonical Allele Identifier: CA2770499700
Gene: PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139479_31139498del , CM000668.2:g.31139479_31139498del GRCh38
NC_000006.11:g.31107256_31107275del , CM000668.1:g.31107256_31107275del GRCh37
NC_000006.10:g.31215235_31215254del NCBI36
NG_021348.1:g.29649_29668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-162_168-143del MANE Select ENSP00000259881.9:n.168-162_168-143del
ENST00000259881.9:c.168-162_168-143del ENSP00000259881.9:n.168-162_168-143del
ENST00000479581.5:n.62-162_62-143del
ENST00000481450.2:c.-22-162_-22-143del ENSP00000447158.1:n.-22-162_-22-143del
ENST00000547221.1:c.24-162_24-143del ENSP00000449471.1:n.24-162_24-143del
NM_014068.2:c.168-162_168-143del NP_054787.2:n.168-162_168-143del
NM_014068.3:c.168-162_168-143del MANE Select NP_054787.2:n.168-162_168-143del