Canonical Allele Identifier: CA2677927822

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117442-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117443_31117444del , CM000668.2:g.31117443_31117444del	GRCh38
NC_000006.11:g.31085220_31085221del , CM000668.1:g.31085220_31085221del	GRCh37
NC_000006.10:g.31193199_31193200del	NCBI36
NG_012192.1:g.8003_8004del
NG_021348.1:g.7613_7614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2552_-229+2553del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2552_-229+2553del
ENST00000376288.3:c.171_172del (CDSN) MANE Select	ENSP00000365465.2:p.Gly58GlufsTer3
ENST00000259881.9:c.-229+2552_-229+2553del (PSORS1C1)	ENSP00000259881.9:n.-229+2552_-229+2553del
ENST00000376288.2:c.171_172del (CDSN)	ENSP00000365465.2:p.Gly58GlufsTer3
ENST00000467107.1:n.2450_2451del (PSORS1C1)
ENST00000479581.5:n.61+2552_61+2553del (PSORS1C1)
ENST00000548049.1:n.119+2552_119+2553del (PSORS1C1)
ENST00000550838.1:n.58+2552_58+2553del (PSORS1C1)
ENST00000552747.1:n.53+2552_53+2553del (PSORS1C1)
NM_001264.4:c.171_172del (CDSN)	NP_001255.3:p.Gly58GlufsTer3
NM_014068.2:c.-229+2552_-229+2553del (PSORS1C1)	NP_054787.2:n.-229+2552_-229+2553del
NM_001264.5:c.171_172del (CDSN) MANE Select	NP_001255.4:p.Gly58GlufsTer3
NM_014068.3:c.-229+2552_-229+2553del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2552_-229+2553del