Canonical Allele Identifier: CA2677932207

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139187-T-TGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139188_31139190dup , CM000668.2:g.31139188_31139190dup	GRCh38
NC_000006.11:g.31106965_31106967dup , CM000668.1:g.31106965_31106967dup	GRCh37
NC_000006.10:g.31214944_31214946dup	NCBI36
NG_021348.1:g.29358_29360dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+409_167+411dup (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+409_167+411dup
ENST00000259845.4:c.-164_-162dup (PSORS1C2)	ENSP00000259845.4:n.-164_-162dup
ENST00000259881.9:c.167+409_167+411dup (PSORS1C1)	ENSP00000259881.9:n.167+409_167+411dup
ENST00000479581.5:n.62-453_62-451dup (PSORS1C1)
ENST00000481450.2:c.-22-453_-22-451dup (PSORS1C1)	ENSP00000447158.1:n.-22-453_-22-451dup
ENST00000547221.1:c.23+409_23+411dup (PSORS1C1)	ENSP00000449471.1:n.23+409_23+411dup
ENST00000552747.1:n.883_885dup (PSORS1C1)
NM_014068.2:c.167+409_167+411dup (PSORS1C1)	NP_054787.2:n.167+409_167+411dup
NM_014069.2:c.-164_-162dup (PSORS1C2)	NP_054788.2:n.-164_-162dup
NM_014068.3:c.167+409_167+411dup (PSORS1C1) MANE Select	NP_054787.2:n.167+409_167+411dup