Canonical Allele Identifier: CA1087425294

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1772242413
• gnomAD v3: 6-31117686-CTA-C
• gnomAD v4: 6-31117686-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117687_31117688del , CM000668.2:g.31117687_31117688del	GRCh38
NC_000006.11:g.31085464_31085465del , CM000668.1:g.31085464_31085465del	GRCh37
NC_000006.10:g.31193443_31193444del	NCBI36
NG_012192.1:g.7759_7760del
NG_021348.1:g.7857_7858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2796_-229+2797del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2796_-229+2797del
ENST00000376288.3:c.86-159_86-158del (CDSN) MANE Select	ENSP00000365465.2:n.86-159_86-158del
ENST00000259881.9:c.-229+2796_-229+2797del (PSORS1C1)	ENSP00000259881.9:n.-229+2796_-229+2797del
ENST00000376288.2:c.86-159_86-158del (CDSN)	ENSP00000365465.2:n.86-159_86-158del
ENST00000467107.1:n.2694_2695del (PSORS1C1)
ENST00000479581.5:n.61+2796_61+2797del (PSORS1C1)
ENST00000548049.1:n.119+2796_119+2797del (PSORS1C1)
ENST00000550838.1:n.58+2796_58+2797del (PSORS1C1)
ENST00000552747.1:n.53+2796_53+2797del (PSORS1C1)
NM_001264.4:c.86-159_86-158del (CDSN)	NP_001255.3:n.86-159_86-158del
NM_014068.2:c.-229+2796_-229+2797del (PSORS1C1)	NP_054787.2:n.-229+2796_-229+2797del
NM_001264.5:c.86-159_86-158del (CDSN) MANE Select	NP_001255.4:n.86-159_86-158del
NM_014068.3:c.-229+2796_-229+2797del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2796_-229+2797del