Canonical Allele Identifier: CA2574381330
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059707del , CM000663.2:g.55059707del GRCh38
NC_000001.10:g.55525380del , CM000663.1:g.55525380del GRCh37
NC_000001.9:g.55297968del NCBI36
NG_009061.1:g.25161del , LRG_275:g.25161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+44del ENSP00000501161.2:n.1681+44del
ENST00000710286.1:c.2038+44del ENSP00000518176.1:n.2038+44del
ENST00000673903.1:c.1306+44del ENSP00000501257.1:n.1306+44del
ENST00000673913.1:c.421+44del ENSP00000501161.1:n.421+44del
ENST00000302118.5:c.1681+44del MANE Select ENSP00000303208.5:n.1681+44del
ENST00000490692.1:n.2227+1060del
NM_174936.3:c.1681+44del , LRG_275t1:c.1681+44del NP_777596.2:n.1681+44del
NR_110451.1:n.1288+44del
XM_011541193.1:c.802+44del XP_011539495.1:n.802+44del
NM_174936.4:c.1681+44del MANE Select NP_777596.2:n.1681+44del
NR_110451.2:n.1288+44del