Canonical Allele Identifier: CA823850661

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1324077097
• gnomAD v3: 6-31117182-CGCTGTTTCCCGAGTGAGAGCT-C
• gnomAD v4: 6-31117182-CGCTGTTTCCCGAGTGAGAGCT-C
• MyVariant Identifiers: chr6:g.31084960_31084980del (hg19) ; chr6:g.31117183_31117203del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117187_31117207del , CM000668.2:g.31117187_31117207del	GRCh38
NC_000006.11:g.31084964_31084984del , CM000668.1:g.31084964_31084984del	GRCh37
NC_000006.10:g.31192943_31192963del	NCBI36
NG_021348.1:g.7357_7377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2296_-229+2316del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2296_-229+2316del
ENST00000376288.3:c.412_432del (CDSN) MANE Select	ENSP00000365465.2:p.Ser138_Ser144del
ENST00000259881.9:c.-229+2296_-229+2316del (PSORS1C1)	ENSP00000259881.9:n.-229+2296_-229+2316del
ENST00000376288.2:c.412_432del (CDSN)	ENSP00000365465.2:p.Ser138_Ser144del
ENST00000467107.1:n.2194_2214del (PSORS1C1)
ENST00000479581.5:n.61+2296_61+2316del (PSORS1C1)
ENST00000493289.1:n.165_185del (PSORS1C1)
ENST00000548049.1:n.119+2296_119+2316del (PSORS1C1)
ENST00000550838.1:n.58+2296_58+2316del (PSORS1C1)
ENST00000552747.1:n.53+2296_53+2316del (PSORS1C1)
NM_014068.2:c.-229+2296_-229+2316del (PSORS1C1)	NP_054787.2:n.-229+2296_-229+2316del
NM_001264.5:c.412_432del (CDSN) MANE Select	NP_001255.4:p.Ser138_Ser144del
NM_014068.3:c.-229+2296_-229+2316del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2296_-229+2316del