Canonical Allele Identifier: CA1619021464
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Linked Data

dbSNP Id: rs1773318759

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139112_31139114del , CM000668.2:g.31139112_31139114del GRCh38
NC_000006.11:g.31106889_31106891del , CM000668.1:g.31106889_31106891del GRCh37
NC_000006.10:g.31214868_31214870del NCBI36
NG_021348.1:g.29282_29284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+333_167+335del (PSORS1C1) MANE Select ENSP00000259881.9:n.167+333_167+335del
ENST00000259845.4:c.-83_-81del (PSORS1C2) ENSP00000259845.4:n.-83_-81del
ENST00000259881.9:c.167+333_167+335del (PSORS1C1) ENSP00000259881.9:n.167+333_167+335del
ENST00000479581.5:n.62-529_62-527del (PSORS1C1)
ENST00000481450.2:c.-22-529_-22-527del (PSORS1C1) ENSP00000447158.1:n.-22-529_-22-527del
ENST00000547221.1:c.23+333_23+335del (PSORS1C1) ENSP00000449471.1:n.23+333_23+335del
ENST00000552747.1:n.807_809del (PSORS1C1)
NM_014068.2:c.167+333_167+335del (PSORS1C1) NP_054787.2:n.167+333_167+335del
NM_014069.2:c.-83_-81del (PSORS1C2) NP_054788.2:n.-83_-81del
NM_014068.3:c.167+333_167+335del (PSORS1C1) MANE Select NP_054787.2:n.167+333_167+335del