Canonical Allele Identifier: CA2645840761

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063760-A-AACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063769_55063772dup , CM000663.2:g.55063769_55063772dup	GRCh38
NC_000001.10:g.55529442_55529445dup , CM000663.1:g.55529442_55529445dup	GRCh37
NC_000001.9:g.55302030_55302033dup	NCBI36
NG_009061.1:g.29223_29226dup , LRG_275:g.29223_29226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*604_*607dup	ENSP00000501161.2:n.*604_*607dup
ENST00000710286.1:c.*185_*188dup	ENSP00000518176.1:n.*185_*188dup
ENST00000673903.1:c.*185_*188dup	ENSP00000501257.1:n.*185_*188dup
ENST00000302118.5:c.*185_*188dup MANE Select	ENSP00000303208.5:n.*185_*188dup
ENST00000490692.1:n.2810_2813dup
NM_174936.3:c.*185_*188dup , LRG_275t1:c.*185_*188dup	NP_777596.2:n.*185_*188dup
NR_110451.1:n.1871_1874dup
XM_011541193.1:c.*185_*188dup	XP_011539495.1:n.*185_*188dup
NM_174936.4:c.*185_*188dup MANE Select	NP_777596.2:n.*185_*188dup
NR_110451.2:n.1871_1874dup