Canonical Allele Identifier: CA2677928267

Gene: PSORS1C1 CDSN

Linked Data

• gnomAD v4: 6-31117607-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117607_31117608insG , CM000668.2:g.31117607_31117608insG	GRCh38
NC_000006.11:g.31085384_31085385insG , CM000668.1:g.31085384_31085385insG	GRCh37
NC_000006.10:g.31193363_31193364insG	NCBI36
NG_012192.1:g.7839_7840insC
NG_021348.1:g.7777_7778insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2716_-229+2717insG (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2716_-229+2717insG
ENST00000376288.3:c.86-79_86-78insC (CDSN) MANE Select	ENSP00000365465.2:n.86-79_86-78insC
ENST00000259881.9:c.-229+2716_-229+2717insG (PSORS1C1)	ENSP00000259881.9:n.-229+2716_-229+2717insG
ENST00000376288.2:c.86-79_86-78insC (CDSN)	ENSP00000365465.2:n.86-79_86-78insC
ENST00000467107.1:n.2614_2615insG (PSORS1C1)
ENST00000479581.5:n.61+2716_61+2717insG (PSORS1C1)
ENST00000548049.1:n.119+2716_119+2717insG (PSORS1C1)
ENST00000550838.1:n.58+2716_58+2717insG (PSORS1C1)
ENST00000552747.1:n.53+2716_53+2717insG (PSORS1C1)
NM_001264.4:c.86-79_86-78insC (CDSN)	NP_001255.3:n.86-79_86-78insC
NM_014068.2:c.-229+2716_-229+2717insG (PSORS1C1)	NP_054787.2:n.-229+2716_-229+2717insG
NM_001264.5:c.86-79_86-78insC (CDSN) MANE Select	NP_001255.4:n.86-79_86-78insC
NM_014068.3:c.-229+2716_-229+2717insG (PSORS1C1) MANE Select	NP_054787.2:n.-229+2716_-229+2717insG