Canonical Allele Identifier: CA1087441672

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs1773315421
• gnomAD v3: 6-31139035-A-ACTGGCCC
• gnomAD v4: 6-31139035-A-ACTGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139037_31139043dup , CM000668.2:g.31139037_31139043dup	GRCh38
NC_000006.11:g.31106814_31106820dup , CM000668.1:g.31106814_31106820dup	GRCh37
NC_000006.10:g.31214793_31214799dup	NCBI36
NG_021348.1:g.29207_29213dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-16_-10dup (PSORS1C2) MANE Select	ENSP00000259845.4:n.-16_-10dup
ENST00000259881.10:c.167+258_167+264dup (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+258_167+264dup
ENST00000259845.4:c.-16_-10dup (PSORS1C2)	ENSP00000259845.4:n.-16_-10dup
ENST00000259881.9:c.167+258_167+264dup (PSORS1C1)	ENSP00000259881.9:n.167+258_167+264dup
ENST00000479581.5:n.62-604_62-598dup (PSORS1C1)
ENST00000481450.2:c.-23+578_-23+584dup (PSORS1C1)	ENSP00000447158.1:n.-23+578_-23+584dup
ENST00000547221.1:c.23+258_23+264dup (PSORS1C1)	ENSP00000449471.1:n.23+258_23+264dup
ENST00000552747.1:n.732_738dup (PSORS1C1)
NM_014068.2:c.167+258_167+264dup (PSORS1C1)	NP_054787.2:n.167+258_167+264dup
NM_014069.2:c.-16_-10dup (PSORS1C2)	NP_054788.2:n.-16_-10dup
NM_014069.3:c.-16_-10dup (PSORS1C2) MANE Select	NP_054788.2:n.-16_-10dup
NM_014068.3:c.167+258_167+264dup (PSORS1C1) MANE Select	NP_054787.2:n.167+258_167+264dup