Canonical Allele Identifier: CA1619012282

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117670_31117671delinsGA , CM000668.2:g.31117670_31117671delinsGA	GRCh38
NC_000006.11:g.31085447_31085448delinsGA , CM000668.1:g.31085447_31085448delinsGA	GRCh37
NC_000006.10:g.31193426_31193427delinsGA	NCBI36
NG_012192.1:g.7776_7777delinsTC
NG_021348.1:g.7840_7841delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2779_-229+2780delinsGA (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2779_-229+2780delinsGA
ENST00000376288.3:c.86-142_86-141delinsTC (CDSN) MANE Select	ENSP00000365465.2:n.86-142_86-141delinsTC
ENST00000259881.9:c.-229+2779_-229+2780delinsGA (PSORS1C1)	ENSP00000259881.9:n.-229+2779_-229+2780delinsGA
ENST00000376288.2:c.86-142_86-141delinsTC (CDSN)	ENSP00000365465.2:n.86-142_86-141delinsTC
ENST00000467107.1:n.2677_2678delinsGA (PSORS1C1)
ENST00000479581.5:n.61+2779_61+2780delinsGA (PSORS1C1)
ENST00000548049.1:n.119+2779_119+2780delinsGA (PSORS1C1)
ENST00000550838.1:n.58+2779_58+2780delinsGA (PSORS1C1)
ENST00000552747.1:n.53+2779_53+2780delinsGA (PSORS1C1)
NM_001264.4:c.86-142_86-141delinsTC (CDSN)	NP_001255.3:n.86-142_86-141delinsTC
NM_014068.2:c.-229+2779_-229+2780delinsGA (PSORS1C1)	NP_054787.2:n.-229+2779_-229+2780delinsGA
NM_001264.5:c.86-142_86-141delinsTC (CDSN) MANE Select	NP_001255.4:n.86-142_86-141delinsTC
NM_014068.3:c.-229+2779_-229+2780delinsGA (PSORS1C1) MANE Select	NP_054787.2:n.-229+2779_-229+2780delinsGA