Canonical Allele Identifier: CA2677931965

Gene: PSORS1C2 PSORS1C1

Linked Data

• gnomAD v4: 6-31139055-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139058del , CM000668.2:g.31139058del	GRCh38
NC_000006.11:g.31106835del , CM000668.1:g.31106835del	GRCh37
NC_000006.10:g.31214814del	NCBI36
NG_021348.1:g.29228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-30del (PSORS1C2) MANE Select	ENSP00000259845.4:n.-30del
ENST00000259881.10:c.167+279del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+279del
ENST00000259845.4:c.-30del (PSORS1C2)	ENSP00000259845.4:n.-30del
ENST00000259881.9:c.167+279del (PSORS1C1)	ENSP00000259881.9:n.167+279del
ENST00000479581.5:n.62-583del (PSORS1C1)
ENST00000481450.2:c.-22-583del (PSORS1C1)	ENSP00000447158.1:n.-22-583del
ENST00000547221.1:c.23+279del (PSORS1C1)	ENSP00000449471.1:n.23+279del
ENST00000552747.1:n.753del (PSORS1C1)
NM_014068.2:c.167+279del (PSORS1C1)	NP_054787.2:n.167+279del
NM_014069.2:c.-30del (PSORS1C2)	NP_054788.2:n.-30del
NM_014069.3:c.-30del (PSORS1C2) MANE Select	NP_054788.2:n.-30del
NM_014068.3:c.167+279del (PSORS1C1) MANE Select	NP_054787.2:n.167+279del