Canonical Allele Identifier: CA917709975

Gene: PSORS1C1 PSORS1C2

Linked Data

• dbSNP Id: rs1561777843
• gnomAD v4: 6-31139142-TCAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139149_31139153del , CM000668.2:g.31139149_31139153del	GRCh38
NC_000006.11:g.31106926_31106930del , CM000668.1:g.31106926_31106930del	GRCh37
NC_000006.10:g.31214905_31214909del	NCBI36
NG_021348.1:g.29319_29323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+370_167+374del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+370_167+374del
ENST00000259845.4:c.-121_-117del (PSORS1C2)	ENSP00000259845.4:n.-121_-117del
ENST00000259881.9:c.167+370_167+374del (PSORS1C1)	ENSP00000259881.9:n.167+370_167+374del
ENST00000479581.5:n.62-492_62-488del (PSORS1C1)
ENST00000481450.2:c.-22-492_-22-488del (PSORS1C1)	ENSP00000447158.1:n.-22-492_-22-488del
ENST00000547221.1:c.23+370_23+374del (PSORS1C1)	ENSP00000449471.1:n.23+370_23+374del
ENST00000552747.1:n.844_848del (PSORS1C1)
NM_014068.2:c.167+370_167+374del (PSORS1C1)	NP_054787.2:n.167+370_167+374del
NM_014069.2:c.-121_-117del (PSORS1C2)	NP_054788.2:n.-121_-117del
NM_014068.3:c.167+370_167+374del (PSORS1C1) MANE Select	NP_054787.2:n.167+370_167+374del