Canonical Allele Identifier: CA1001920859

Gene: PCSK9

Linked Data

• dbSNP Id: rs1644745712
• gnomAD v3: 1-55059742-C-CGTGGTGTG
• gnomAD v4: 1-55059742-C-CGTGGTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059742_55059743insGTGGTGTG , CM000663.2:g.55059742_55059743insGTGGTGTG	GRCh38
NC_000001.10:g.55525415_55525416insGTGGTGTG , CM000663.1:g.55525415_55525416insGTGGTGTG	GRCh37
NC_000001.9:g.55298003_55298004insGTGGTGTG	NCBI36
NG_009061.1:g.25196_25197insGTGGTGTG , LRG_275:g.25196_25197insGTGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+79_1681+80insGTGGTGTG	ENSP00000501161.2:n.1681+79_1681+80insGTGGTGTG
ENST00000710286.1:c.2038+79_2038+80insGTGGTGTG	ENSP00000518176.1:n.2038+79_2038+80insGTGGTGTG
ENST00000673903.1:c.1306+79_1306+80insGTGGTGTG	ENSP00000501257.1:n.1306+79_1306+80insGTGGTGTG
ENST00000673913.1:c.421+79_421+80insGTGGTGTG	ENSP00000501161.1:n.421+79_421+80insGTGGTGTG
ENST00000302118.5:c.1681+79_1681+80insGTGGTGTG MANE Select	ENSP00000303208.5:n.1681+79_1681+80insGTGGTGTG
ENST00000490692.1:n.2227+1095_2227+1096insGTGGTGTG
NM_174936.3:c.1681+79_1681+80insGTGGTGTG , LRG_275t1:c.1681+79_1681+80insGTGGTGTG	NP_777596.2:n.1681+79_1681+80insGTGGTGTG
NR_110451.1:n.1288+79_1288+80insGTGGTGTG
XM_011541193.1:c.802+79_802+80insGTGGTGTG	XP_011539495.1:n.802+79_802+80insGTGGTGTG
NM_174936.4:c.1681+79_1681+80insGTGGTGTG MANE Select	NP_777596.2:n.1681+79_1681+80insGTGGTGTG
NR_110451.2:n.1288+79_1288+80insGTGGTGTG