Canonical Allele Identifier: CA1167984896

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059523_55059525delinsCTT , CM000663.2:g.55059523_55059525delinsCTT	GRCh38
NC_000001.10:g.55525196_55525198delinsCTT , CM000663.1:g.55525196_55525198delinsCTT	GRCh37
NC_000001.9:g.55297784_55297786delinsCTT	NCBI36
NG_009061.1:g.24977_24979delinsCTT , LRG_275:g.24977_24979delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1541_1543delinsCTT	ENSP00000501161.2:p.Ala514=
ENST00000710286.1:c.1898_1900delinsCTT	ENSP00000518176.1:p.Ala633=
ENST00000673903.1:c.1166_1168delinsCTT	ENSP00000501257.1:p.Ala389=
ENST00000673913.1:c.281_283delinsCTT	ENSP00000501161.1:p.Ala94=
ENST00000302118.5:c.1541_1543delinsCTT MANE Select	ENSP00000303208.5:p.Ala514=
ENST00000490692.1:n.2227+876_2227+878delinsCTT
NM_174936.3:c.1541_1543delinsCTT , LRG_275t1:c.1541_1543delinsCTT	NP_777596.2:p.Ala514=
NR_110451.1:n.1148_1150delinsCTT
XM_011541193.1:c.662_664delinsCTT	XP_011539495.1:p.Ala221=
NM_174936.4:c.1541_1543delinsCTT MANE Select	NP_777596.2:p.Ala514=
NR_110451.2:n.1148_1150delinsCTT