Canonical Allele Identifier: CA2578563745

Gene: PSORS1C2 PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139026_31139035del , CM000668.2:g.31139026_31139035del	GRCh38
NC_000006.11:g.31106803_31106812del , CM000668.1:g.31106803_31106812del	GRCh37
NC_000006.10:g.31214782_31214791del	NCBI36
NG_021348.1:g.29196_29205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-8_2del (PSORS1C2)
ENST00000259881.10:c.167+247_167+256del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+247_167+256del
ENST00000259845.4:c.-8_2del (PSORS1C2)
ENST00000259881.9:c.167+247_167+256del (PSORS1C1)	ENSP00000259881.9:n.167+247_167+256del
ENST00000479581.5:n.62-615_62-606del (PSORS1C1)
ENST00000481450.2:c.-23+567_-23+576del (PSORS1C1)	ENSP00000447158.1:n.-23+567_-23+576del
ENST00000547221.1:c.23+247_23+256del (PSORS1C1)	ENSP00000449471.1:n.23+247_23+256del
ENST00000552747.1:n.721_730del (PSORS1C1)
NM_014068.2:c.167+247_167+256del (PSORS1C1)	NP_054787.2:n.167+247_167+256del
NM_014069.2:c.-8_2del (PSORS1C2)
NM_014069.3:c.-8_2del (PSORS1C2)
NM_014068.3:c.167+247_167+256del (PSORS1C1) MANE Select	NP_054787.2:n.167+247_167+256del