Canonical Allele Identifier: CA2645841009

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059523-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059527dup , CM000663.2:g.55059527dup	GRCh38
NC_000001.10:g.55525200dup , CM000663.1:g.55525200dup	GRCh37
NC_000001.9:g.55297788dup	NCBI36
NG_009061.1:g.24981dup , LRG_275:g.24981dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1545dup	ENSP00000501161.2:p.Gly516TrpfsTer3
ENST00000710286.1:c.1902dup	ENSP00000518176.1:p.Gly635TrpfsTer3
ENST00000673903.1:c.1170dup	ENSP00000501257.1:p.Gly391TrpfsTer3
ENST00000673913.1:c.285dup	ENSP00000501161.1:p.Gly96TrpfsTer3
ENST00000302118.5:c.1545dup MANE Select	ENSP00000303208.5:p.Gly516TrpfsTer3
ENST00000490692.1:n.2227+880dup
NM_174936.3:c.1545dup , LRG_275t1:c.1545dup	NP_777596.2:p.Gly516TrpfsTer3
NR_110451.1:n.1152dup
XM_011541193.1:c.666dup	XP_011539495.1:p.Gly223TrpfsTer3
NM_174936.4:c.1545dup MANE Select	NP_777596.2:p.Gly516TrpfsTer3
NR_110451.2:n.1152dup