Canonical Allele Identifier: CA2677931954

Gene: PSORS1C2 PSORS1C1

Linked Data

• gnomAD v4: 6-31139024-CATGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139025_31139028del , CM000668.2:g.31139025_31139028del	GRCh38
NC_000006.11:g.31106802_31106805del , CM000668.1:g.31106802_31106805del	GRCh37
NC_000006.10:g.31214781_31214784del	NCBI36
NG_021348.1:g.29195_29198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-2_2del (PSORS1C2)
ENST00000259881.10:c.167+246_167+249del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+246_167+249del
ENST00000259845.4:c.-2_2del (PSORS1C2)
ENST00000259881.9:c.167+246_167+249del (PSORS1C1)	ENSP00000259881.9:n.167+246_167+249del
ENST00000479581.5:n.62-616_62-613del (PSORS1C1)
ENST00000481450.2:c.-23+566_-23+569del (PSORS1C1)	ENSP00000447158.1:n.-23+566_-23+569del
ENST00000547221.1:c.23+246_23+249del (PSORS1C1)	ENSP00000449471.1:n.23+246_23+249del
ENST00000552747.1:n.720_723del (PSORS1C1)
NM_014068.2:c.167+246_167+249del (PSORS1C1)	NP_054787.2:n.167+246_167+249del
NM_014069.2:c.-2_2del (PSORS1C2)
NM_014069.3:c.-2_2del (PSORS1C2)
NM_014068.3:c.167+246_167+249del (PSORS1C1) MANE Select	NP_054787.2:n.167+246_167+249del