Canonical Allele Identifier: CA1167978163

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644616747

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55044024_55044028del , CM000663.2:g.55044024_55044028del	GRCh38
NC_000001.10:g.55509697_55509701del , CM000663.1:g.55509697_55509701del	GRCh37
NC_000001.9:g.55282285_55282289del	NCBI36
NG_009061.1:g.9478_9482del , LRG_275:g.9478_9482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.389_393del	ENSP00000501161.2:p.Leu130ArgfsTer?
ENST00000710286.1:c.746_750del	ENSP00000518176.1:p.Leu249ArgfsTer?
ENST00000673662.1:n.59_63del
ENST00000673726.1:c.389_393del	ENSP00000501004.1:p.Leu130ArgfsTer?
ENST00000673903.1:c.14_18del	ENSP00000501257.1:p.Leu5ArgfsTer?
ENST00000302118.5:c.389_393del MANE Select	ENSP00000303208.5:p.Leu130ArgfsTer?
NM_174936.3:c.389_393del , LRG_275t1:c.389_393del	NP_777596.2:p.Leu130ArgfsTer?
NR_110451.1:n.182+3621_182+3625del
NM_174936.4:c.389_393del MANE Select	NP_777596.2:p.Leu130ArgfsTer?
NR_110451.2:n.182+3621_182+3625del