Canonical Allele Identifier: CA3708480

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs769534800
• ExAC: 6:31084859 GT / G
• gnomAD v2: 6-31084859-GT-G
• MyVariant Identifiers: chr6:g.31084860del (hg19) ; chr6:g.31117083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117084del , CM000668.2:g.31117084del	GRCh38
NC_000006.11:g.31084861del , CM000668.1:g.31084861del	GRCh37
NC_000006.10:g.31192840del	NCBI36
NG_012192.1:g.8364del
NG_021348.1:g.7254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2193del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2193del
ENST00000376288.3:c.532del (CDSN) MANE Select	ENSP00000365465.2:p.Thr178ProfsTer10
ENST00000259881.9:c.-229+2193del (PSORS1C1)	ENSP00000259881.9:n.-229+2193del
ENST00000376288.2:c.532del (CDSN)	ENSP00000365465.2:p.Thr178ProfsTer10
ENST00000467107.1:n.2091del (PSORS1C1)
ENST00000479581.5:n.61+2193del (PSORS1C1)
ENST00000493289.1:n.68-6del (PSORS1C1)
ENST00000548049.1:n.119+2193del (PSORS1C1)
ENST00000550838.1:n.58+2193del (PSORS1C1)
ENST00000552747.1:n.53+2193del (PSORS1C1)
NM_001264.4:c.532del (CDSN)	NP_001255.3:p.Thr178ProfsTer10
NM_014068.2:c.-229+2193del (PSORS1C1)	NP_054787.2:n.-229+2193del
NM_001264.5:c.532del (CDSN) MANE Select	NP_001255.4:p.Thr178ProfsTer10
NM_014068.3:c.-229+2193del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2193del