Canonical Allele Identifier: CA523275415

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 3075524
• ClinVar RCV Id: RCV004017042
• dbSNP Id: rs1344705474
• gnomAD v2: 1-55505598-G-GCGCA
• gnomAD v3: 1-55039925-G-GCGCA
• gnomAD v4: 1-55039925-G-GCGCA
• MyVariant Identifiers: chr1:g.55505598_55505599insCGCA (hg19) ; chr1:g.55039925_55039926insCGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039926_55039929dup , CM000663.2:g.55039926_55039929dup	GRCh38
NC_000001.10:g.55505599_55505602dup , CM000663.1:g.55505599_55505602dup	GRCh37
NC_000001.9:g.55278187_55278190dup	NCBI36
NG_009061.1:g.5380_5383dup , LRG_275:g.5380_5383dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.89_92dup	ENSP00000501161.2:p.Gln31HisfsTer?
ENST00000710286.1:c.446_449dup	ENSP00000518176.1:p.Gln150HisfsTer?
ENST00000673726.1:c.89_92dup	ENSP00000501004.1:p.Gln31HisfsTer?
ENST00000302118.5:c.89_92dup MANE Select	ENSP00000303208.5:p.Gln31HisfsTer?
NM_174936.3:c.89_92dup , LRG_275t1:c.89_92dup	NP_777596.2:p.Gln31HisfsTer?
NM_174936.4:c.89_92dup MANE Select	NP_777596.2:p.Gln31HisfsTer?