Canonical Allele Identifier: CA2695198814

Gene: PSORS1C1 CDSN

Linked Data

• ClinVar Variation Id: 2632545
• ClinVar RCV Id: RCV003406192

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117034del , CM000668.2:g.31117034del	GRCh38
NC_000006.11:g.31084811del , CM000668.1:g.31084811del	GRCh37
NC_000006.10:g.31192790del	NCBI36
NG_012192.1:g.8415del
NG_021348.1:g.7204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2143del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2143del
ENST00000376288.3:c.583del (CDSN) MANE Select	ENSP00000365465.2:p.Ser195AlafsTer?
ENST00000259881.9:c.-229+2143del (PSORS1C1)	ENSP00000259881.9:n.-229+2143del
ENST00000376288.2:c.583del (CDSN)	ENSP00000365465.2:p.Ser195AlafsTer?
ENST00000467107.1:n.2041del (PSORS1C1)
ENST00000479581.5:n.61+2143del (PSORS1C1)
ENST00000493289.1:n.68-56del (PSORS1C1)
ENST00000548049.1:n.119+2143del (PSORS1C1)
ENST00000550838.1:n.58+2143del (PSORS1C1)
ENST00000552747.1:n.53+2143del (PSORS1C1)
NM_001264.4:c.583del (CDSN)	NP_001255.3:p.Ser195AlafsTer?
NM_014068.2:c.-229+2143del (PSORS1C1)	NP_054787.2:n.-229+2143del
NM_001264.5:c.583del (CDSN) MANE Select	NP_001255.4:p.Ser195AlafsTer?
NM_014068.3:c.-229+2143del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2143del