Canonical Allele Identifier: CA645553728

Gene: PSORS1C1 CDSN

Linked Data

• COSMIC: COSM4671282

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117471del , CM000668.2:g.31117471del	GRCh38
NC_000006.11:g.31085248del , CM000668.1:g.31085248del	GRCh37
NC_000006.10:g.31193227del	NCBI36
NG_012192.1:g.7976del
NG_021348.1:g.7641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2580del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2580del
ENST00000376288.3:c.144del (CDSN) MANE Select	ENSP00000365465.2:p.Thr49ProfsTer?
ENST00000259881.9:c.-229+2580del (PSORS1C1)	ENSP00000259881.9:n.-229+2580del
ENST00000376288.2:c.144del (CDSN)	ENSP00000365465.2:p.Thr49ProfsTer?
ENST00000467107.1:n.2478del (PSORS1C1)
ENST00000479581.5:n.61+2580del (PSORS1C1)
ENST00000548049.1:n.119+2580del (PSORS1C1)
ENST00000550838.1:n.58+2580del (PSORS1C1)
ENST00000552747.1:n.53+2580del (PSORS1C1)
NM_001264.4:c.144del (CDSN)	NP_001255.3:p.Thr49ProfsTer?
NM_014068.2:c.-229+2580del (PSORS1C1)	NP_054787.2:n.-229+2580del
NM_001264.5:c.144del (CDSN) MANE Select	NP_001255.4:p.Thr49ProfsTer?
NM_014068.3:c.-229+2580del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2580del