Canonical Allele Identifier: CA1619012272

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117646_31117647delinsGT , CM000668.2:g.31117646_31117647delinsGT	GRCh38
NC_000006.11:g.31085423_31085424delinsGT , CM000668.1:g.31085423_31085424delinsGT	GRCh37
NC_000006.10:g.31193402_31193403delinsGT	NCBI36
NG_012192.1:g.7800_7801delinsAC
NG_021348.1:g.7816_7817delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2755_-229+2756delinsGT (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2755_-229+2756delinsGT
ENST00000376288.3:c.86-118_86-117delinsAC (CDSN) MANE Select	ENSP00000365465.2:n.86-118_86-117delinsAC
ENST00000259881.9:c.-229+2755_-229+2756delinsGT (PSORS1C1)	ENSP00000259881.9:n.-229+2755_-229+2756delinsGT
ENST00000376288.2:c.86-118_86-117delinsAC (CDSN)	ENSP00000365465.2:n.86-118_86-117delinsAC
ENST00000467107.1:n.2653_2654delinsGT (PSORS1C1)
ENST00000479581.5:n.61+2755_61+2756delinsGT (PSORS1C1)
ENST00000548049.1:n.119+2755_119+2756delinsGT (PSORS1C1)
ENST00000550838.1:n.58+2755_58+2756delinsGT (PSORS1C1)
ENST00000552747.1:n.53+2755_53+2756delinsGT (PSORS1C1)
NM_001264.4:c.86-118_86-117delinsAC (CDSN)	NP_001255.3:n.86-118_86-117delinsAC
NM_014068.2:c.-229+2755_-229+2756delinsGT (PSORS1C1)	NP_054787.2:n.-229+2755_-229+2756delinsGT
NM_001264.5:c.86-118_86-117delinsAC (CDSN) MANE Select	NP_001255.4:n.86-118_86-117delinsAC
NM_014068.3:c.-229+2755_-229+2756delinsGT (PSORS1C1) MANE Select	NP_054787.2:n.-229+2755_-229+2756delinsGT