Canonical Allele Identifier: CA1167978148

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043990_55043991delinsCT , CM000663.2:g.55043990_55043991delinsCT	GRCh38
NC_000001.10:g.55509663_55509664delinsCT , CM000663.1:g.55509663_55509664delinsCT	GRCh37
NC_000001.9:g.55282251_55282252delinsCT	NCBI36
NG_009061.1:g.9444_9445delinsCT , LRG_275:g.9444_9445delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.355_356delinsCT	ENSP00000501161.2:p.Leu119=
ENST00000710286.1:c.712_713delinsCT	ENSP00000518176.1:p.Leu238=
ENST00000673662.1:n.25_26delinsCT
ENST00000673726.1:c.355_356delinsCT	ENSP00000501004.1:p.Leu119=
ENST00000673903.1:c.-21_-20delinsCT	ENSP00000501257.1:n.-21_-20delinsCT
ENST00000302118.5:c.355_356delinsCT MANE Select	ENSP00000303208.5:p.Leu119=
NM_174936.3:c.355_356delinsCT , LRG_275t1:c.355_356delinsCT	NP_777596.2:p.Leu119=
NR_110451.1:n.182+3587_182+3588delinsCT
NM_174936.4:c.355_356delinsCT MANE Select	NP_777596.2:p.Leu119=
NR_110451.2:n.182+3587_182+3588delinsCT