Canonical Allele Identifier: CA1619012310

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1772244126

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117723_31117724del , CM000668.2:g.31117723_31117724del	GRCh38
NC_000006.11:g.31085500_31085501del , CM000668.1:g.31085500_31085501del	GRCh37
NC_000006.10:g.31193479_31193480del	NCBI36
NG_012192.1:g.7724_7725del
NG_021348.1:g.7893_7894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2832_-229+2833del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2832_-229+2833del
ENST00000376288.3:c.86-194_86-193del (CDSN) MANE Select	ENSP00000365465.2:n.86-194_86-193del
ENST00000259881.9:c.-229+2832_-229+2833del (PSORS1C1)	ENSP00000259881.9:n.-229+2832_-229+2833del
ENST00000376288.2:c.86-194_86-193del (CDSN)	ENSP00000365465.2:n.86-194_86-193del
ENST00000467107.1:n.2730_2731del (PSORS1C1)
ENST00000479581.5:n.61+2832_61+2833del (PSORS1C1)
ENST00000548049.1:n.119+2832_119+2833del (PSORS1C1)
ENST00000550838.1:n.58+2832_58+2833del (PSORS1C1)
ENST00000552747.1:n.53+2832_53+2833del (PSORS1C1)
NM_001264.4:c.86-194_86-193del (CDSN)	NP_001255.3:n.86-194_86-193del
NM_014068.2:c.-229+2832_-229+2833del (PSORS1C1)	NP_054787.2:n.-229+2832_-229+2833del
NM_001264.5:c.86-194_86-193del (CDSN) MANE Select	NP_001255.4:n.86-194_86-193del
NM_014068.3:c.-229+2832_-229+2833del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2832_-229+2833del