Canonical Allele Identifier: CA2743687284
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059705del , CM000663.2:g.55059705del GRCh38
NC_000001.10:g.55525378del , CM000663.1:g.55525378del GRCh37
NC_000001.9:g.55297966del NCBI36
NG_009061.1:g.25159del , LRG_275:g.25159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+42del ENSP00000501161.2:n.1681+42del
ENST00000710286.1:c.2038+42del ENSP00000518176.1:n.2038+42del
ENST00000673903.1:c.1306+42del ENSP00000501257.1:n.1306+42del
ENST00000673913.1:c.421+42del ENSP00000501161.1:n.421+42del
ENST00000302118.5:c.1681+42del MANE Select ENSP00000303208.5:n.1681+42del
ENST00000490692.1:n.2227+1058del
NM_174936.3:c.1681+42del , LRG_275t1:c.1681+42del NP_777596.2:n.1681+42del
NR_110451.1:n.1288+42del
XM_011541193.1:c.802+42del XP_011539495.1:n.802+42del
NM_174936.4:c.1681+42del MANE Select NP_777596.2:n.1681+42del
NR_110451.2:n.1288+42del