Canonical Allele Identifier: CA1087425305

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs1772244271
• gnomAD v3: 6-31117721-CTTTG-C
• gnomAD v4: 6-31117721-CTTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117726_31117729del , CM000668.2:g.31117726_31117729del	GRCh38
NC_000006.11:g.31085503_31085506del , CM000668.1:g.31085503_31085506del	GRCh37
NC_000006.10:g.31193482_31193485del	NCBI36
NG_012192.1:g.7722_7725del
NG_021348.1:g.7896_7899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2835_-229+2838del (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2835_-229+2838del
ENST00000376288.3:c.86-196_86-193del (CDSN) MANE Select	ENSP00000365465.2:n.86-196_86-193del
ENST00000259881.9:c.-229+2835_-229+2838del (PSORS1C1)	ENSP00000259881.9:n.-229+2835_-229+2838del
ENST00000376288.2:c.86-196_86-193del (CDSN)	ENSP00000365465.2:n.86-196_86-193del
ENST00000467107.1:n.2733_2736del (PSORS1C1)
ENST00000479581.5:n.61+2835_61+2838del (PSORS1C1)
ENST00000548049.1:n.119+2835_119+2838del (PSORS1C1)
ENST00000550838.1:n.58+2835_58+2838del (PSORS1C1)
ENST00000552747.1:n.53+2835_53+2838del (PSORS1C1)
NM_001264.4:c.86-196_86-193del (CDSN)	NP_001255.3:n.86-196_86-193del
NM_014068.2:c.-229+2835_-229+2838del (PSORS1C1)	NP_054787.2:n.-229+2835_-229+2838del
NM_001264.5:c.86-196_86-193del (CDSN) MANE Select	NP_001255.4:n.86-196_86-193del
NM_014068.3:c.-229+2835_-229+2838del (PSORS1C1) MANE Select	NP_054787.2:n.-229+2835_-229+2838del