Canonical Allele Identifier: CA2677930538

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125632-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125633_31125635dup , CM000668.2:g.31125633_31125635dup	GRCh38
NC_000006.11:g.31093410_31093412dup , CM000668.1:g.31093410_31093412dup	GRCh37
NC_000006.10:g.31201389_31201391dup	NCBI36
NG_021348.1:g.15803_15805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-43_-228-41dup MANE Select	ENSP00000259881.9:n.-228-43_-228-41dup
ENST00000259881.9:c.-228-43_-228-41dup	ENSP00000259881.9:n.-228-43_-228-41dup
ENST00000479581.5:n.61+10742_61+10744dup
ENST00000548049.1:n.120-46_120-44dup
ENST00000550838.1:n.59-106_59-104dup
ENST00000552747.1:n.53+10742_53+10744dup
NM_014068.2:c.-228-43_-228-41dup	NP_054787.2:n.-228-43_-228-41dup
NM_014068.3:c.-228-43_-228-41dup MANE Select	NP_054787.2:n.-228-43_-228-41dup