Canonical Allele Identifier: CA136804567

Gene: PSORS1C1 CDSN

Linked Data

• dbSNP Id: rs868462761

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31117276_31117277delinsAA , CM000668.2:g.31117276_31117277delinsAA	GRCh38
NC_000006.11:g.31085053_31085054delinsAA , CM000668.1:g.31085053_31085054delinsAA	GRCh37
NC_000006.10:g.31193032_31193033delinsAA	NCBI36
NG_012192.1:g.8170_8171delinsTT
NG_021348.1:g.7446_7447delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-229+2385_-229+2386delinsAA (PSORS1C1) MANE Select	ENSP00000259881.9:n.-229+2385_-229+2386delinsAA
ENST00000376288.3:c.338_339delinsTT (CDSN) MANE Select	ENSP00000365465.2:p.Ser113Phe
ENST00000259881.9:c.-229+2385_-229+2386delinsAA (PSORS1C1)	ENSP00000259881.9:n.-229+2385_-229+2386delinsAA
ENST00000376288.2:c.338_339delinsTT (CDSN)	ENSP00000365465.2:p.Ser113Phe
ENST00000467107.1:n.2283_2284delinsAA (PSORS1C1)
ENST00000479581.5:n.61+2385_61+2386delinsAA (PSORS1C1)
ENST00000493289.1:n.254_255delinsAA (PSORS1C1)
ENST00000548049.1:n.119+2385_119+2386delinsAA (PSORS1C1)
ENST00000550838.1:n.58+2385_58+2386delinsAA (PSORS1C1)
ENST00000552747.1:n.53+2385_53+2386delinsAA (PSORS1C1)
NM_001264.4:c.338_339delinsTT (CDSN)	NP_001255.3:p.Ser113Phe
NM_014068.2:c.-229+2385_-229+2386delinsAA (PSORS1C1)	NP_054787.2:n.-229+2385_-229+2386delinsAA
NM_001264.5:c.338_339delinsTT (CDSN) MANE Select	NP_001255.4:p.Ser113Phe
NM_014068.3:c.-229+2385_-229+2386delinsAA (PSORS1C1) MANE Select	NP_054787.2:n.-229+2385_-229+2386delinsAA