Canonical Allele Identifier: CA2677927553

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117344-T-TGGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117344_31117345insGGAGCC , CM000668.2:g.31117344_31117345insGGAGCC	GRCh38
NC_000006.11:g.31085121_31085122insGGAGCC , CM000668.1:g.31085121_31085122insGGAGCC	GRCh37
NC_000006.10:g.31193100_31193101insGGAGCC	NCBI36
NG_012192.1:g.8102_8103insGGCTCC
NG_021348.1:g.7514_7515insGGAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2453_-229+2454insGGAGCC (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2453_-229+2454insGGAGCC
ENST00000376288.3:c.270_271insGGCTCC (CDSN) MANE Select	ENSP00000365465.2:p.Gly90_Ser91insGlySer
ENST00000259881.9:c.-229+2453_-229+2454insGGAGCC (PSORS1C1)	ENSP00000259881.9:n.-229+2453_-229+2454insGGAGCC
ENST00000376288.2:c.270_271insGGCTCC (CDSN)	ENSP00000365465.2:p.Gly90_Ser91insGlySer
ENST00000467107.1:n.2351_2352insGGAGCC (PSORS1C1)
ENST00000479581.5:n.61+2453_61+2454insGGAGCC (PSORS1C1)
ENST00000548049.1:n.119+2453_119+2454insGGAGCC (PSORS1C1)
ENST00000550838.1:n.58+2453_58+2454insGGAGCC (PSORS1C1)
ENST00000552747.1:n.53+2453_53+2454insGGAGCC (PSORS1C1)
NM_001264.4:c.270_271insGGCTCC (CDSN)	NP_001255.3:p.Gly90_Ser91insGlySer
NM_014068.2:c.-229+2453_-229+2454insGGAGCC (PSORS1C1)	NP_054787.2:n.-229+2453_-229+2454insGGAGCC
NM_001264.5:c.270_271insGGCTCC (CDSN) MANE Select	NP_001255.4:p.Gly90_Ser91insGlySer
NM_014068.3:c.-229+2453_-229+2454insGGAGCC (PSORS1C1) MANE Select	NP_054787.2:n.-229+2453_-229+2454insGGAGCC