Canonical Allele Identifier: CA2499214813

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 1172421
• ClinVar RCV Id: RCV001526280
• dbSNP Id: rs2100330364

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059520del , CM000663.2:g.55059520del	GRCh38
NC_000001.10:g.55525193del , CM000663.1:g.55525193del	GRCh37
NC_000001.9:g.55297781del	NCBI36
NG_009061.1:g.24974del , LRG_275:g.24974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1538del	ENSP00000501161.2:p.Asn513ThrfsTer?
ENST00000710286.1:c.1895del	ENSP00000518176.1:p.Asn632ThrfsTer?
ENST00000673903.1:c.1163del	ENSP00000501257.1:p.Asn388ThrfsTer?
ENST00000673913.1:c.278del	ENSP00000501161.1:p.Asn93ThrfsTer?
ENST00000302118.5:c.1538del MANE Select	ENSP00000303208.5:p.Asn513ThrfsTer?
ENST00000490692.1:n.2227+873del
NM_174936.3:c.1538del , LRG_275t1:c.1538del	NP_777596.2:p.Asn513ThrfsTer?
NR_110451.1:n.1145del
XM_011541193.1:c.659del	XP_011539495.1:p.Asn220ThrfsTer?
NM_174936.4:c.1538del MANE Select	NP_777596.2:p.Asn513ThrfsTer?
NR_110451.2:n.1145del