Canonical Allele Identifier: CA566688474

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1279957945
• gnomAD v2: 6-31085312-GAGGA-G
• gnomAD v4: 6-31117535-GAGGA-G
• MyVariant Identifiers: chr6:g.31085313_31085316del (hg19) ; chr6:g.31117536_31117539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117537_31117540del , CM000668.2:g.31117537_31117540del	GRCh38
NC_000006.11:g.31085314_31085317del , CM000668.1:g.31085314_31085317del	GRCh37
NC_000006.10:g.31193293_31193296del	NCBI36
NG_012192.1:g.7908_7911del
NG_021348.1:g.7707_7710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2646_-229+2649del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2646_-229+2649del
ENST00000376288.3:c.86-10_86-7del (CDSN) MANE Select	ENSP00000365465.2:n.86-10_86-7del
ENST00000259881.9:c.-229+2646_-229+2649del (PSORS1C1)	ENSP00000259881.9:n.-229+2646_-229+2649del
ENST00000376288.2:c.86-10_86-7del (CDSN)	ENSP00000365465.2:n.86-10_86-7del
ENST00000467107.1:n.2544_2547del (PSORS1C1)
ENST00000479581.5:n.61+2646_61+2649del (PSORS1C1)
ENST00000548049.1:n.119+2646_119+2649del (PSORS1C1)
ENST00000550838.1:n.58+2646_58+2649del (PSORS1C1)
ENST00000552747.1:n.53+2646_53+2649del (PSORS1C1)
NM_001264.4:c.86-10_86-7del (CDSN)	NP_001255.3:n.86-10_86-7del
NM_014068.2:c.-229+2646_-229+2649del (PSORS1C1)	NP_054787.2:n.-229+2646_-229+2649del
NM_001264.5:c.86-10_86-7del (CDSN) MANE Select	NP_001255.4:n.86-10_86-7del
NM_014068.3:c.-229+2646_-229+2649del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2646_-229+2649del