Canonical Allele Identifier: CA1619021444
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139050_31139051delinsTG , CM000668.2:g.31139050_31139051delinsTG GRCh38
NC_000006.11:g.31106827_31106828delinsTG , CM000668.1:g.31106827_31106828delinsTG GRCh37
NC_000006.10:g.31214806_31214807delinsTG NCBI36
NG_021348.1:g.29220_29221delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.-25_-24delinsCA (PSORS1C2) MANE Select ENSP00000259845.4:n.-25_-24delinsCA
ENST00000259881.10:c.167+271_167+272delinsTG (PSORS1C1) MANE Select ENSP00000259881.9:n.167+271_167+272delinsTG
ENST00000259845.4:c.-25_-24delinsCA (PSORS1C2) ENSP00000259845.4:n.-25_-24delinsCA
ENST00000259881.9:c.167+271_167+272delinsTG (PSORS1C1) ENSP00000259881.9:n.167+271_167+272delinsTG
ENST00000479581.5:n.62-591_62-590delinsTG (PSORS1C1)
ENST00000481450.2:c.-22-591_-22-590delinsTG (PSORS1C1) ENSP00000447158.1:n.-22-591_-22-590delinsTG
ENST00000547221.1:c.23+271_23+272delinsTG (PSORS1C1) ENSP00000449471.1:n.23+271_23+272delinsTG
ENST00000552747.1:n.745_746delinsTG (PSORS1C1)
NM_014068.2:c.167+271_167+272delinsTG (PSORS1C1) NP_054787.2:n.167+271_167+272delinsTG
NM_014069.2:c.-25_-24delinsCA (PSORS1C2) NP_054788.2:n.-25_-24delinsCA
NM_014069.3:c.-25_-24delinsCA (PSORS1C2) MANE Select NP_054788.2:n.-25_-24delinsCA
NM_014068.3:c.167+271_167+272delinsTG (PSORS1C1) MANE Select NP_054787.2:n.167+271_167+272delinsTG