Canonical Allele Identifier: CA566688442

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1174640748
• gnomAD v2: 6-31084941-T-TGCCCGAGTGAGAGCC
• gnomAD v3: 6-31117164-T-TGCCCGAGTGAGAGCC
• gnomAD v4: 6-31117164-T-TGCCCGAGTGAGAGCC
• MyVariant Identifiers: chr6:g.31084941_31084942insGCCCGAGTGAGAGCC (hg19) ; chr6:g.31117164_31117165insGCCCGAGTGAGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117166_31117167insCCGAGTGAGAGCCGC , CM000668.2:g.31117166_31117167insCCGAGTGAGAGCCGC	GRCh38
NC_000006.11:g.31084943_31084944insCCGAGTGAGAGCCGC , CM000668.1:g.31084943_31084944insCCGAGTGAGAGCCGC	GRCh37
NC_000006.10:g.31192922_31192923insCCGAGTGAGAGCCGC	NCBI36
NG_012192.1:g.8282_8283insGGCTCTCACTCGGGC
NG_021348.1:g.7336_7337insCCGAGTGAGAGCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2275_-229+2276insCCGAGTGAGAGCCGC (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2275_-229+2276insCCGAGTGAGAGCCGC
ENST00000376288.3:c.450_451insGGCTCTCACTCGGGC (CDSN) MANE Select	ENSP00000365465.2:p.Ser150_Ser151insGlySerHisSerGly
ENST00000259881.9:c.-229+2275_-229+2276insCCGAGTGAGAGCCGC (PSORS1C1)	ENSP00000259881.9:n.-229+2275_-229+2276insCCGAGTGAGAGCCGC
ENST00000376288.2:c.450_451insGGCTCTCACTCGGGC (CDSN)	ENSP00000365465.2:p.Ser150_Ser151insGlySerHisSerGly
ENST00000467107.1:n.2173_2174insCCGAGTGAGAGCCGC (PSORS1C1)
ENST00000479581.5:n.61+2275_61+2276insCCGAGTGAGAGCCGC (PSORS1C1)
ENST00000493289.1:n.144_145insCCGAGTGAGAGCCGC (PSORS1C1)
ENST00000548049.1:n.119+2275_119+2276insCCGAGTGAGAGCCGC (PSORS1C1)
ENST00000550838.1:n.58+2275_58+2276insCCGAGTGAGAGCCGC (PSORS1C1)
ENST00000552747.1:n.53+2275_53+2276insCCGAGTGAGAGCCGC (PSORS1C1)
NM_001264.4:c.450_451insGGCTCTCACTCGGGC (CDSN)	NP_001255.3:p.Ser150_Ser151insGlySerHisSerGly
NM_014068.2:c.-229+2275_-229+2276insCCGAGTGAGAGCCGC (PSORS1C1)	NP_054787.2:n.-229+2275_-229+2276insCCGAGTGAGAGCCGC
NM_001264.5:c.450_451insGGCTCTCACTCGGGC (CDSN) MANE Select	NP_001255.4:p.Ser150_Ser151insGlySerHisSerGly
NM_014068.3:c.-229+2275_-229+2276insCCGAGTGAGAGCCGC (PSORS1C1) MANE Select	NP_054787.2:n.-229+2275_-229+2276insCCGAGTGAGAGCCGC