Canonical Allele Identifier: CA2645840595

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063692-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063693dup , CM000663.2:g.55063693dup	GRCh38
NC_000001.10:g.55529366dup , CM000663.1:g.55529366dup	GRCh37
NC_000001.9:g.55301954dup	NCBI36
NG_009061.1:g.29147dup , LRG_275:g.29147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*528dup	ENSP00000501161.2:n.*528dup
ENST00000710286.1:c.*109dup	ENSP00000518176.1:n.*109dup
ENST00000673903.1:c.*109dup	ENSP00000501257.1:n.*109dup
ENST00000302118.5:c.*109dup MANE Select	ENSP00000303208.5:n.*109dup
ENST00000490692.1:n.2734dup
NM_174936.3:c.*109dup , LRG_275t1:c.*109dup	NP_777596.2:n.*109dup
NR_110451.1:n.1795dup
XM_011541193.1:c.*109dup	XP_011539495.1:n.*109dup
NM_174936.4:c.*109dup MANE Select	NP_777596.2:n.*109dup
NR_110451.2:n.1795dup