Canonical Allele Identifier: CA1167976428

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039919_55039920delinsGC , CM000663.2:g.55039919_55039920delinsGC	GRCh38
NC_000001.10:g.55505592_55505593delinsGC , CM000663.1:g.55505592_55505593delinsGC	GRCh37
NC_000001.9:g.55278180_55278181delinsGC	NCBI36
NG_009061.1:g.5373_5374delinsGC , LRG_275:g.5373_5374delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.82_83delinsGC	ENSP00000501161.2:p.Ala28=
ENST00000710286.1:c.439_440delinsGC	ENSP00000518176.1:p.Ala147=
ENST00000673726.1:c.82_83delinsGC	ENSP00000501004.1:p.Ala28=
ENST00000302118.5:c.82_83delinsGC MANE Select	ENSP00000303208.5:p.Ala28=
NM_174936.3:c.82_83delinsGC , LRG_275t1:c.82_83delinsGC	NP_777596.2:p.Ala28=
NM_174936.4:c.82_83delinsGC MANE Select	NP_777596.2:p.Ala28=