Canonical Allele Identifier: CA2695206193

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117094_31117095insC , CM000668.2:g.31117094_31117095insC	GRCh38
NC_000006.11:g.31084871_31084872insC , CM000668.1:g.31084871_31084872insC	GRCh37
NC_000006.10:g.31192850_31192851insC	NCBI36
NG_012192.1:g.8352_8353insG
NG_021348.1:g.7264_7265insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2203_-229+2204insC (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2203_-229+2204insC
ENST00000376288.3:c.520_521insG (CDSN) MANE Select	ENSP00000365465.2:p.Ser174CysfsTer7
ENST00000259881.9:c.-229+2203_-229+2204insC (PSORS1C1)	ENSP00000259881.9:n.-229+2203_-229+2204insC
ENST00000376288.2:c.520_521insG (CDSN)	ENSP00000365465.2:p.Ser174CysfsTer7
ENST00000467107.1:n.2101_2102insC (PSORS1C1)
ENST00000479581.5:n.61+2203_61+2204insC (PSORS1C1)
ENST00000493289.1:n.72_73insC (PSORS1C1)
ENST00000548049.1:n.119+2203_119+2204insC (PSORS1C1)
ENST00000550838.1:n.58+2203_58+2204insC (PSORS1C1)
ENST00000552747.1:n.53+2203_53+2204insC (PSORS1C1)
NM_001264.4:c.520_521insG (CDSN)	NP_001255.3:p.Ser174CysfsTer7
NM_014068.2:c.-229+2203_-229+2204insC (PSORS1C1)	NP_054787.2:n.-229+2203_-229+2204insC
NM_001264.5:c.520_521insG (CDSN) MANE Select	NP_001255.4:p.Ser174CysfsTer7
NM_014068.3:c.-229+2203_-229+2204insC (PSORS1C1) MANE Select	NP_054787.2:n.-229+2203_-229+2204insC