Canonical Allele Identifier: CA1619021474

Gene: PSORS1C1 PSORS1C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139142_31139147delinsTCAGAA , CM000668.2:g.31139142_31139147delinsTCAGAA	GRCh38
NC_000006.11:g.31106919_31106924delinsTCAGAA , CM000668.1:g.31106919_31106924delinsTCAGAA	GRCh37
NC_000006.10:g.31214898_31214903delinsTCAGAA	NCBI36
NG_021348.1:g.29312_29317delinsTCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+363_167+368delinsTCAGAA (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+363_167+368delinsTCAGAA
ENST00000259845.4:c.-121_-116delinsTTCTGA (PSORS1C2)	ENSP00000259845.4:n.-121_-116delinsTTCTGA
ENST00000259881.9:c.167+363_167+368delinsTCAGAA (PSORS1C1)	ENSP00000259881.9:n.167+363_167+368delinsTCAGAA
ENST00000479581.5:n.62-499_62-494delinsTCAGAA (PSORS1C1)
ENST00000481450.2:c.-22-499_-22-494delinsTCAGAA (PSORS1C1)	ENSP00000447158.1:n.-22-499_-22-494delinsTCAGAA
ENST00000547221.1:c.23+363_23+368delinsTCAGAA (PSORS1C1)	ENSP00000449471.1:n.23+363_23+368delinsTCAGAA
ENST00000552747.1:n.837_842delinsTCAGAA (PSORS1C1)
NM_014068.2:c.167+363_167+368delinsTCAGAA (PSORS1C1)	NP_054787.2:n.167+363_167+368delinsTCAGAA
NM_014069.2:c.-121_-116delinsTTCTGA (PSORS1C2)	NP_054788.2:n.-121_-116delinsTTCTGA
NM_014068.3:c.167+363_167+368delinsTCAGAA (PSORS1C1) MANE Select	NP_054787.2:n.167+363_167+368delinsTCAGAA