Canonical Allele Identifier: CA2598278141

Gene: PCSK9

Linked Data

• gnomAD v3: 1-55039609-T-TGGAGGAGTGAGCCA
• gnomAD v4: 1-55039609-T-TGGAGGAGTGAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039612_55039625dup , CM000663.2:g.55039612_55039625dup	GRCh38
NC_000001.10:g.55505285_55505298dup , CM000663.1:g.55505285_55505298dup	GRCh37
NC_000001.9:g.55277873_55277886dup	NCBI36
NG_009061.1:g.5066_5079dup , LRG_275:g.5066_5079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.-226_-213dup	ENSP00000501161.2:n.-226_-213dup
ENST00000710286.1:c.132_145dup	ENSP00000518176.1:p.Ala49GlufsTer3
ENST00000673726.1:c.-226_-213dup	ENSP00000501004.1:n.-226_-213dup
ENST00000302118.5:c.-226_-213dup MANE Select	ENSP00000303208.5:n.-226_-213dup
NM_174936.3:c.-226_-213dup , LRG_275t1:c.-226_-213dup	NP_777596.2:n.-226_-213dup
NM_174936.4:c.-226_-213dup MANE Select	NP_777596.2:n.-226_-213dup