Canonical Allele Identifier: CA1619012032

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117166_31117187delinsCTTCCCGAGTGAGAGCCGCTGT , CM000668.2:g.31117166_31117187delinsCTTCCCGAGTGAGAGCCGCTGT	GRCh38
NC_000006.11:g.31084943_31084964delinsCTTCCCGAGTGAGAGCCGCTGT , CM000668.1:g.31084943_31084964delinsCTTCCCGAGTGAGAGCCGCTGT	GRCh37
NC_000006.10:g.31192922_31192943delinsCTTCCCGAGTGAGAGCCGCTGT	NCBI36
NG_021348.1:g.7336_7357delinsCTTCCCGAGTGAGAGCCGCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGC...
ENST00000376288.3:c.428_449delinsACAGCGGCTCTCACTCGGGAAG (CDSN) MANE Select	ENSP00000365465.2:p.Asn143=
ENST00000259881.9:c.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)	ENSP00000259881.9:n.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGC...
ENST00000376288.2:c.428_449delinsACAGCGGCTCTCACTCGGGAAG (CDSN)	ENSP00000365465.2:p.Asn143=
ENST00000467107.1:n.2173_2194delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
ENST00000479581.5:n.61+2275_61+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
ENST00000493289.1:n.144_165delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
ENST00000548049.1:n.119+2275_119+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
ENST00000550838.1:n.58+2275_58+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
ENST00000552747.1:n.53+2275_53+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)
NM_014068.2:c.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1)	NP_054787.2:n.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT...
NM_001264.5:c.428_449delinsACAGCGGCTCTCACTCGGGAAG (CDSN) MANE Select	NP_001255.4:p.Asn143=
NM_014068.3:c.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT (PSORS1C1) MANE Select	NP_054787.2:n.-229+2275_-229+2296delinsCTTCCCGAGTGAGAGCCGCTGT...