Canonical Allele Identifier: CA2574381377
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063595_55063599del , CM000663.2:g.55063595_55063599del GRCh38
NC_000001.10:g.55529268_55529272del , CM000663.1:g.55529268_55529272del GRCh37
NC_000001.9:g.55301856_55301860del NCBI36
NG_009061.1:g.29049_29053del , LRG_275:g.29049_29053del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*430_*434del ENSP00000501161.2:n.*430_*434del
ENST00000710286.1:c.*11_*15del ENSP00000518176.1:n.*11_*15del
ENST00000673903.1:c.*11_*15del ENSP00000501257.1:n.*11_*15del
ENST00000302118.5:c.*11_*15del MANE Select ENSP00000303208.5:n.*11_*15del
ENST00000490692.1:n.2636_2640del
NM_174936.3:c.*11_*15del , LRG_275t1:c.*11_*15del NP_777596.2:n.*11_*15del
NR_110451.1:n.1697_1701del
XM_011541193.1:c.*11_*15del XP_011539495.1:n.*11_*15del
NM_174936.4:c.*11_*15del MANE Select NP_777596.2:n.*11_*15del
NR_110451.2:n.1697_1701del