Canonical Allele Identifier: CA2677931956

Gene: PSORS1C2 PSORS1C1

Linked Data

• gnomAD v4: 6-31139029-CTATGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139030_31139035del , CM000668.2:g.31139030_31139035del	GRCh38
NC_000006.11:g.31106807_31106812del , CM000668.1:g.31106807_31106812del	GRCh37
NC_000006.10:g.31214786_31214791del	NCBI36
NG_021348.1:g.29200_29205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-9_-4del (PSORS1C2) MANE Select	ENSP00000259845.4:n.-9_-4del
ENST00000259881.10:c.167+251_167+256del (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+251_167+256del
ENST00000259845.4:c.-9_-4del (PSORS1C2)	ENSP00000259845.4:n.-9_-4del
ENST00000259881.9:c.167+251_167+256del (PSORS1C1)	ENSP00000259881.9:n.167+251_167+256del
ENST00000479581.5:n.62-611_62-606del (PSORS1C1)
ENST00000481450.2:c.-23+571_-23+576del (PSORS1C1)	ENSP00000447158.1:n.-23+571_-23+576del
ENST00000547221.1:c.23+251_23+256del (PSORS1C1)	ENSP00000449471.1:n.23+251_23+256del
ENST00000552747.1:n.725_730del (PSORS1C1)
NM_014068.2:c.167+251_167+256del (PSORS1C1)	NP_054787.2:n.167+251_167+256del
NM_014069.2:c.-9_-4del (PSORS1C2)	NP_054788.2:n.-9_-4del
NM_014069.3:c.-9_-4del (PSORS1C2) MANE Select	NP_054788.2:n.-9_-4del
NM_014068.3:c.167+251_167+256del (PSORS1C1) MANE Select	NP_054787.2:n.167+251_167+256del