Canonical Allele Identifier: CA1619011992

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117082_31117083delinsGT , CM000668.2:g.31117082_31117083delinsGT	GRCh38
NC_000006.11:g.31084859_31084860delinsGT , CM000668.1:g.31084859_31084860delinsGT	GRCh37
NC_000006.10:g.31192838_31192839delinsGT	NCBI36
NG_012192.1:g.8364_8365delinsAC
NG_021348.1:g.7252_7253delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2191_-229+2192delinsGT (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2191_-229+2192delinsGT
ENST00000376288.3:c.532_533delinsAC (CDSN) MANE Select	ENSP00000365465.2:p.Thr178=
ENST00000259881.9:c.-229+2191_-229+2192delinsGT (PSORS1C1)	ENSP00000259881.9:n.-229+2191_-229+2192delinsGT
ENST00000376288.2:c.532_533delinsAC (CDSN)	ENSP00000365465.2:p.Thr178=
ENST00000467107.1:n.2089_2090delinsGT (PSORS1C1)
ENST00000479581.5:n.61+2191_61+2192delinsGT (PSORS1C1)
ENST00000493289.1:n.68-8_68-7delinsGT (PSORS1C1)
ENST00000548049.1:n.119+2191_119+2192delinsGT (PSORS1C1)
ENST00000550838.1:n.58+2191_58+2192delinsGT (PSORS1C1)
ENST00000552747.1:n.53+2191_53+2192delinsGT (PSORS1C1)
NM_001264.4:c.532_533delinsAC (CDSN)	NP_001255.3:p.Thr178=
NM_014068.2:c.-229+2191_-229+2192delinsGT (PSORS1C1)	NP_054787.2:n.-229+2191_-229+2192delinsGT
NM_001264.5:c.532_533delinsAC (CDSN) MANE Select	NP_001255.4:p.Thr178=
NM_014068.3:c.-229+2191_-229+2192delinsGT (PSORS1C1) MANE Select	NP_054787.2:n.-229+2191_-229+2192delinsGT