Canonical Allele Identifier: CA1087441742

Gene: PSORS1C1 PSORS1C2

Linked Data

• dbSNP Id: rs1773323807
• gnomAD v3: 6-31139234-A-AC
• gnomAD v4: 6-31139234-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139237dup , CM000668.2:g.31139237dup	GRCh38
NC_000006.11:g.31107014dup , CM000668.1:g.31107014dup	GRCh37
NC_000006.10:g.31214993dup	NCBI36
NG_021348.1:g.29407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.168-404dup (PSORS1C1) MANE Select	ENSP00000259881.9:n.168-404dup
ENST00000259845.4:c.-209dup (PSORS1C2)	ENSP00000259845.4:n.-209dup
ENST00000259881.9:c.168-404dup (PSORS1C1)	ENSP00000259881.9:n.168-404dup
ENST00000479581.5:n.62-404dup (PSORS1C1)
ENST00000481450.2:c.-22-404dup (PSORS1C1)	ENSP00000447158.1:n.-22-404dup
ENST00000547221.1:c.24-404dup (PSORS1C1)	ENSP00000449471.1:n.24-404dup
ENST00000552747.1:n.932dup (PSORS1C1)
NM_014068.2:c.168-404dup (PSORS1C1)	NP_054787.2:n.168-404dup
NM_014069.2:c.-209dup (PSORS1C2)	NP_054788.2:n.-209dup
NM_014068.3:c.168-404dup (PSORS1C1) MANE Select	NP_054787.2:n.168-404dup