Canonical Allele Identifier: CA1167986659
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644781284

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063791del , CM000663.2:g.55063791del GRCh38
NC_000001.10:g.55529464del , CM000663.1:g.55529464del GRCh37
NC_000001.9:g.55302052del NCBI36
NG_009061.1:g.29245del , LRG_275:g.29245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*626del ENSP00000501161.2:n.*626del
ENST00000710286.1:c.*207del ENSP00000518176.1:n.*207del
ENST00000673903.1:c.*207del ENSP00000501257.1:n.*207del
ENST00000302118.5:c.*207del MANE Select ENSP00000303208.5:n.*207del
ENST00000490692.1:n.2832del
NM_174936.3:c.*207del , LRG_275t1:c.*207del NP_777596.2:n.*207del
NR_110451.1:n.1893del
XM_011541193.1:c.*207del XP_011539495.1:n.*207del
NM_174936.4:c.*207del MANE Select NP_777596.2:n.*207del
NR_110451.2:n.1893del