Canonical Allele Identifier: CA1619021641

Gene: PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139543_31139553delinsCCGCACTGAAA , CM000668.2:g.31139543_31139553delinsCCGCACTGAAA	GRCh38
NC_000006.11:g.31107320_31107330delinsCCGCACTGAAA , CM000668.1:g.31107320_31107330delinsCCGCACTGAAA	GRCh37
NC_000006.10:g.31215299_31215309delinsCCGCACTGAAA	NCBI36
NG_021348.1:g.29713_29723delinsCCGCACTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.168-98_168-88delinsCCGCACTGAAA MANE Select	ENSP00000259881.9:n.168-98_168-88delinsCCGCACTGAAA
ENST00000259881.9:c.168-98_168-88delinsCCGCACTGAAA	ENSP00000259881.9:n.168-98_168-88delinsCCGCACTGAAA
ENST00000479581.5:n.62-98_62-88delinsCCGCACTGAAA
ENST00000481450.2:c.-22-98_-22-88delinsCCGCACTGAAA	ENSP00000447158.1:n.-22-98_-22-88delinsCCGCACTGAAA
ENST00000547221.1:c.24-98_24-88delinsCCGCACTGAAA	ENSP00000449471.1:n.24-98_24-88delinsCCGCACTGAAA
NM_014068.2:c.168-98_168-88delinsCCGCACTGAAA	NP_054787.2:n.168-98_168-88delinsCCGCACTGAAA
NM_014068.3:c.168-98_168-88delinsCCGCACTGAAA MANE Select	NP_054787.2:n.168-98_168-88delinsCCGCACTGAAA