Canonical Allele Identifier: CA2770498760

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117755_31117756insCACACCC , CM000668.2:g.31117755_31117756insCACACCC	GRCh38
NC_000006.11:g.31085532_31085533insCACACCC , CM000668.1:g.31085532_31085533insCACACCC	GRCh37
NC_000006.10:g.31193511_31193512insCACACCC	NCBI36
NG_012192.1:g.7691_7692insGGGTGTG
NG_021348.1:g.7925_7926insCACACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2864_-229+2865insCACACCC (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2864_-229+2865insCACACCC
ENST00000376288.3:c.86-227_86-226insGGGTGTG (CDSN) MANE Select	ENSP00000365465.2:n.86-227_86-226insGGGTGTG
ENST00000259881.9:c.-229+2864_-229+2865insCACACCC (PSORS1C1)	ENSP00000259881.9:n.-229+2864_-229+2865insCACACCC
ENST00000376288.2:c.86-227_86-226insGGGTGTG (CDSN)	ENSP00000365465.2:n.86-227_86-226insGGGTGTG
ENST00000467107.1:n.2762_2763insCACACCC (PSORS1C1)
ENST00000479581.5:n.61+2864_61+2865insCACACCC (PSORS1C1)
ENST00000548049.1:n.119+2864_119+2865insCACACCC (PSORS1C1)
ENST00000550838.1:n.58+2864_58+2865insCACACCC (PSORS1C1)
ENST00000552747.1:n.53+2864_53+2865insCACACCC (PSORS1C1)
NM_001264.4:c.86-227_86-226insGGGTGTG (CDSN)	NP_001255.3:n.86-227_86-226insGGGTGTG
NM_014068.2:c.-229+2864_-229+2865insCACACCC (PSORS1C1)	NP_054787.2:n.-229+2864_-229+2865insCACACCC
NM_001264.5:c.86-227_86-226insGGGTGTG (CDSN) MANE Select	NP_001255.4:n.86-227_86-226insGGGTGTG
NM_014068.3:c.-229+2864_-229+2865insCACACCC (PSORS1C1) MANE Select	NP_054787.2:n.-229+2864_-229+2865insCACACCC