Canonical Allele Identifier: CA2677932213

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139188-G-GACACA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139188_31139189insACACA , CM000668.2:g.31139188_31139189insACACA	GRCh38
NC_000006.11:g.31106965_31106966insACACA , CM000668.1:g.31106965_31106966insACACA	GRCh37
NC_000006.10:g.31214944_31214945insACACA	NCBI36
NG_021348.1:g.29358_29359insACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+409_167+410insACACA (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+409_167+410insACACA
ENST00000259845.4:c.-163_-162insTGTGT (PSORS1C2)	ENSP00000259845.4:n.-163_-162insTGTGT
ENST00000259881.9:c.167+409_167+410insACACA (PSORS1C1)	ENSP00000259881.9:n.167+409_167+410insACACA
ENST00000479581.5:n.62-453_62-452insACACA (PSORS1C1)
ENST00000481450.2:c.-22-453_-22-452insACACA (PSORS1C1)	ENSP00000447158.1:n.-22-453_-22-452insACACA
ENST00000547221.1:c.23+409_23+410insACACA (PSORS1C1)	ENSP00000449471.1:n.23+409_23+410insACACA
ENST00000552747.1:n.883_884insACACA (PSORS1C1)
NM_014068.2:c.167+409_167+410insACACA (PSORS1C1)	NP_054787.2:n.167+409_167+410insACACA
NM_014069.2:c.-163_-162insTGTGT (PSORS1C2)	NP_054788.2:n.-163_-162insTGTGT
NM_014068.3:c.167+409_167+410insACACA (PSORS1C1) MANE Select	NP_054787.2:n.167+409_167+410insACACA