Canonical Allele Identifier: CA1619012281

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117667_31117668delinsGA , CM000668.2:g.31117667_31117668delinsGA	GRCh38
NC_000006.11:g.31085444_31085445delinsGA , CM000668.1:g.31085444_31085445delinsGA	GRCh37
NC_000006.10:g.31193423_31193424delinsGA	NCBI36
NG_012192.1:g.7779_7780delinsTC
NG_021348.1:g.7837_7838delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2776_-229+2777delinsGA (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2776_-229+2777delinsGA
ENST00000376288.3:c.86-139_86-138delinsTC (CDSN) MANE Select	ENSP00000365465.2:n.86-139_86-138delinsTC
ENST00000259881.9:c.-229+2776_-229+2777delinsGA (PSORS1C1)	ENSP00000259881.9:n.-229+2776_-229+2777delinsGA
ENST00000376288.2:c.86-139_86-138delinsTC (CDSN)	ENSP00000365465.2:n.86-139_86-138delinsTC
ENST00000467107.1:n.2674_2675delinsGA (PSORS1C1)
ENST00000479581.5:n.61+2776_61+2777delinsGA (PSORS1C1)
ENST00000548049.1:n.119+2776_119+2777delinsGA (PSORS1C1)
ENST00000550838.1:n.58+2776_58+2777delinsGA (PSORS1C1)
ENST00000552747.1:n.53+2776_53+2777delinsGA (PSORS1C1)
NM_001264.4:c.86-139_86-138delinsTC (CDSN)	NP_001255.3:n.86-139_86-138delinsTC
NM_014068.2:c.-229+2776_-229+2777delinsGA (PSORS1C1)	NP_054787.2:n.-229+2776_-229+2777delinsGA
NM_001264.5:c.86-139_86-138delinsTC (CDSN) MANE Select	NP_001255.4:n.86-139_86-138delinsTC
NM_014068.3:c.-229+2776_-229+2777delinsGA (PSORS1C1) MANE Select	NP_054787.2:n.-229+2776_-229+2777delinsGA