Canonical Allele Identifier: CA1167985012
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059789_55059790delinsCT , CM000663.2:g.55059789_55059790delinsCT GRCh38
NC_000001.10:g.55525462_55525463delinsCT , CM000663.1:g.55525462_55525463delinsCT GRCh37
NC_000001.9:g.55298050_55298051delinsCT NCBI36
NG_009061.1:g.25243_25244delinsCT , LRG_275:g.25243_25244delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+126_1681+127delinsCT ENSP00000501161.2:n.1681+126_1681+127delinsCT
ENST00000710286.1:c.2038+126_2038+127delinsCT ENSP00000518176.1:n.2038+126_2038+127delinsCT
ENST00000673903.1:c.1306+126_1306+127delinsCT ENSP00000501257.1:n.1306+126_1306+127delinsCT
ENST00000673913.1:c.421+126_421+127delinsCT ENSP00000501161.1:n.421+126_421+127delinsCT
ENST00000302118.5:c.1681+126_1681+127delinsCT MANE Select ENSP00000303208.5:n.1681+126_1681+127delinsCT
ENST00000490692.1:n.2227+1142_2227+1143delinsCT
NM_174936.3:c.1681+126_1681+127delinsCT , LRG_275t1:c.1681+126_1681+127delinsCT NP_777596.2:n.1681+126_1681+127delinsCT
NR_110451.1:n.1288+126_1288+127delinsCT
XM_011541193.1:c.802+126_802+127delinsCT XP_011539495.1:n.802+126_802+127delinsCT
NM_174936.4:c.1681+126_1681+127delinsCT MANE Select NP_777596.2:n.1681+126_1681+127delinsCT
NR_110451.2:n.1288+126_1288+127delinsCT