Canonical Allele Identifier: CA3708821

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs754540560
• ExAC: 6:31106827 TG / T
• gnomAD v2: 6-31106827-TG-T
• MyVariant Identifiers: chr6:g.31106828del (hg19) ; chr6:g.31139051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139054del , CM000668.2:g.31139054del	GRCh38
NC_000006.11:g.31106831del , CM000668.1:g.31106831del	GRCh37
NC_000006.10:g.31214810del	NCBI36
NG_021348.1:g.29224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-25del (PSORS1C2) MANE Select	ENSP00000259845.4:n.-25del
ENST00000259881.10:c.167+275del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+275del
ENST00000259845.4:c.-25del (PSORS1C2)	ENSP00000259845.4:n.-25del
ENST00000259881.9:c.167+275del (PSORS1C1)	ENSP00000259881.9:n.167+275del
ENST00000479581.5:n.62-587del (PSORS1C1)
ENST00000481450.2:c.-22-587del (PSORS1C1)	ENSP00000447158.1:n.-22-587del
ENST00000547221.1:c.23+275del (PSORS1C1)	ENSP00000449471.1:n.23+275del
ENST00000552747.1:n.749del (PSORS1C1)
NM_014068.2:c.167+275del (PSORS1C1)	NP_054787.2:n.167+275del
NM_014069.2:c.-25del (PSORS1C2)	NP_054788.2:n.-25del
NM_014069.3:c.-25del (PSORS1C2) MANE Select	NP_054788.2:n.-25del
NM_014068.3:c.167+275del (PSORS1C1) MANE Select	NP_054787.2:n.167+275del