Canonical Allele Identifier: CA2677932120

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139138-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139140del , CM000668.2:g.31139140del	GRCh38
NC_000006.11:g.31106917del , CM000668.1:g.31106917del	GRCh37
NC_000006.10:g.31214896del	NCBI36
NG_021348.1:g.29310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+361del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+361del
ENST00000259845.4:c.-113del (PSORS1C2)	ENSP00000259845.4:n.-113del
ENST00000259881.9:c.167+361del (PSORS1C1)	ENSP00000259881.9:n.167+361del
ENST00000479581.5:n.62-501del (PSORS1C1)
ENST00000481450.2:c.-22-501del (PSORS1C1)	ENSP00000447158.1:n.-22-501del
ENST00000547221.1:c.23+361del (PSORS1C1)	ENSP00000449471.1:n.23+361del
ENST00000552747.1:n.835del (PSORS1C1)
NM_014068.2:c.167+361del (PSORS1C1)	NP_054787.2:n.167+361del
NM_014069.2:c.-113del (PSORS1C2)	NP_054788.2:n.-113del
NM_014068.3:c.167+361del (PSORS1C1) MANE Select	NP_054787.2:n.167+361del