Canonical Allele Identifier: CA2525457330

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117166-C-CTTCCCGAGTGAGAGCCGCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117182_31117202dup , CM000668.2:g.31117182_31117202dup	GRCh38
NC_000006.11:g.31084959_31084979dup , CM000668.1:g.31084959_31084979dup	GRCh37
NC_000006.10:g.31192938_31192958dup	NCBI36
NG_021348.1:g.7352_7372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2291_-229+2311dup (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2291_-229+2311dup
ENST00000376288.3:c.428_448dup (CDSN) MANE Select	ENSP00000365465.2:p.Gly149_Ser150insAsnSerGlySerHisSerGly
ENST00000259881.9:c.-229+2291_-229+2311dup (PSORS1C1)	ENSP00000259881.9:n.-229+2291_-229+2311dup
ENST00000376288.2:c.428_448dup (CDSN)	ENSP00000365465.2:p.Gly149_Ser150insAsnSerGlySerHisSerGly
ENST00000467107.1:n.2189_2209dup (PSORS1C1)
ENST00000479581.5:n.61+2291_61+2311dup (PSORS1C1)
ENST00000493289.1:n.160_180dup (PSORS1C1)
ENST00000548049.1:n.119+2291_119+2311dup (PSORS1C1)
ENST00000550838.1:n.58+2291_58+2311dup (PSORS1C1)
ENST00000552747.1:n.53+2291_53+2311dup (PSORS1C1)
NM_014068.2:c.-229+2291_-229+2311dup (PSORS1C1)	NP_054787.2:n.-229+2291_-229+2311dup
NM_001264.5:c.428_448dup (CDSN) MANE Select	NP_001255.4:p.Gly149_Ser150insAsnSerGlySerHisSerGly
NM_014068.3:c.-229+2291_-229+2311dup (PSORS1C1) MANE Select	NP_054787.2:n.-229+2291_-229+2311dup