Canonical Allele Identifier: CA523275566

Gene: PCSK9

Linked Data

• gnomAD v2: 1-55525200-T-TG
• MyVariant Identifiers: chr1:g.55525200_55525201insG (hg19) ; chr1:g.55059527_55059528insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059532dup , CM000663.2:g.55059532dup	GRCh38
NC_000001.10:g.55525205dup , CM000663.1:g.55525205dup	GRCh37
NC_000001.9:g.55297793dup	NCBI36
NG_009061.1:g.24986dup , LRG_275:g.24986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1550dup	ENSP00000501161.2:p.Glu518Ter
ENST00000710286.1:c.1907dup	ENSP00000518176.1:p.Glu637Ter
ENST00000673903.1:c.1175dup	ENSP00000501257.1:p.Glu393Ter
ENST00000673913.1:c.290dup	ENSP00000501161.1:p.Glu98Ter
ENST00000302118.5:c.1550dup MANE Select	ENSP00000303208.5:p.Glu518Ter
ENST00000490692.1:n.2227+885dup
NM_174936.3:c.1550dup , LRG_275t1:c.1550dup	NP_777596.2:p.Glu518Ter
NR_110451.1:n.1157dup
XM_011541193.1:c.671dup	XP_011539495.1:p.Glu225Ter
NM_174936.4:c.1550dup MANE Select	NP_777596.2:p.Glu518Ter
NR_110451.2:n.1157dup