Canonical Allele Identifier: CA1619021463

Gene: PSORS1C1 PSORS1C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139106_31139109delinsTGGA , CM000668.2:g.31139106_31139109delinsTGGA	GRCh38
NC_000006.11:g.31106883_31106886delinsTGGA , CM000668.1:g.31106883_31106886delinsTGGA	GRCh37
NC_000006.10:g.31214862_31214865delinsTGGA	NCBI36
NG_021348.1:g.29276_29279delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+327_167+330delinsTGGA (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+327_167+330delinsTGGA
ENST00000259845.4:c.-83_-80delinsTCCA (PSORS1C2)	ENSP00000259845.4:n.-83_-80delinsTCCA
ENST00000259881.9:c.167+327_167+330delinsTGGA (PSORS1C1)	ENSP00000259881.9:n.167+327_167+330delinsTGGA
ENST00000479581.5:n.62-535_62-532delinsTGGA (PSORS1C1)
ENST00000481450.2:c.-22-535_-22-532delinsTGGA (PSORS1C1)	ENSP00000447158.1:n.-22-535_-22-532delinsTGGA
ENST00000547221.1:c.23+327_23+330delinsTGGA (PSORS1C1)	ENSP00000449471.1:n.23+327_23+330delinsTGGA
ENST00000552747.1:n.801_804delinsTGGA (PSORS1C1)
NM_014068.2:c.167+327_167+330delinsTGGA (PSORS1C1)	NP_054787.2:n.167+327_167+330delinsTGGA
NM_014069.2:c.-83_-80delinsTCCA (PSORS1C2)	NP_054788.2:n.-83_-80delinsTCCA
NM_014068.3:c.167+327_167+330delinsTGGA (PSORS1C1) MANE Select	NP_054787.2:n.167+327_167+330delinsTGGA