Canonical Allele Identifier: CA2677929885

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117083-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117084_31117086del , CM000668.2:g.31117084_31117086del	GRCh38
NC_000006.11:g.31084861_31084863del , CM000668.1:g.31084861_31084863del	GRCh37
NC_000006.10:g.31192840_31192842del	NCBI36
NG_012192.1:g.8361_8363del
NG_021348.1:g.7254_7256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2193_-229+2195del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2193_-229+2195del
ENST00000376288.3:c.529_531del (CDSN) MANE Select	ENSP00000365465.2:p.Pro177del
ENST00000259881.9:c.-229+2193_-229+2195del (PSORS1C1)	ENSP00000259881.9:n.-229+2193_-229+2195del
ENST00000376288.2:c.529_531del (CDSN)	ENSP00000365465.2:p.Pro177del
ENST00000467107.1:n.2091_2093del (PSORS1C1)
ENST00000479581.5:n.61+2193_61+2195del (PSORS1C1)
ENST00000493289.1:n.68-6_68-4del (PSORS1C1)
ENST00000548049.1:n.119+2193_119+2195del (PSORS1C1)
ENST00000550838.1:n.58+2193_58+2195del (PSORS1C1)
ENST00000552747.1:n.53+2193_53+2195del (PSORS1C1)
NM_001264.4:c.529_531del (CDSN)	NP_001255.3:p.Pro177del
NM_014068.2:c.-229+2193_-229+2195del (PSORS1C1)	NP_054787.2:n.-229+2193_-229+2195del
NM_001264.5:c.529_531del (CDSN) MANE Select	NP_001255.4:p.Pro177del
NM_014068.3:c.-229+2193_-229+2195del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2193_-229+2195del