Canonical Allele Identifier: CA1001927866

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644582855
• gnomAD v3: 1-55039717-T-TGCTCCTGAACTTCA
• gnomAD v4: 1-55039717-T-TGCTCCTGAACTTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039725_55039738dup , CM000663.2:g.55039725_55039738dup	GRCh38
NC_000001.10:g.55505398_55505411dup , CM000663.1:g.55505398_55505411dup	GRCh37
NC_000001.9:g.55277986_55277999dup	NCBI36
NG_009061.1:g.5179_5192dup , LRG_275:g.5179_5192dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-113_-100dup	ENSP00000501161.2:n.-113_-100dup
ENST00000710286.1:c.245_258dup	ENSP00000518176.1:p.His87AsnfsTer25
ENST00000673726.1:c.-113_-100dup	ENSP00000501004.1:n.-113_-100dup
ENST00000302118.5:c.-113_-100dup MANE Select	ENSP00000303208.5:n.-113_-100dup
NM_174936.3:c.-113_-100dup , LRG_275t1:c.-113_-100dup	NP_777596.2:n.-113_-100dup
NM_174936.4:c.-113_-100dup MANE Select	NP_777596.2:n.-113_-100dup