Canonical Allele Identifier: CA1167986572
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063601_55063602delinsTG , CM000663.2:g.55063601_55063602delinsTG GRCh38
NC_000001.10:g.55529274_55529275delinsTG , CM000663.1:g.55529274_55529275delinsTG GRCh37
NC_000001.9:g.55301862_55301863delinsTG NCBI36
NG_009061.1:g.29055_29056delinsTG , LRG_275:g.29055_29056delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*436_*437delinsTG ENSP00000501161.2:n.*436_*437delinsTG
ENST00000710286.1:c.*17_*18delinsTG ENSP00000518176.1:n.*17_*18delinsTG
ENST00000673903.1:c.*17_*18delinsTG ENSP00000501257.1:n.*17_*18delinsTG
ENST00000302118.5:c.*17_*18delinsTG MANE Select ENSP00000303208.5:n.*17_*18delinsTG
ENST00000490692.1:n.2642_2643delinsTG
NM_174936.3:c.*17_*18delinsTG , LRG_275t1:c.*17_*18delinsTG NP_777596.2:n.*17_*18delinsTG
NR_110451.1:n.1703_1704delinsTG
XM_011541193.1:c.*17_*18delinsTG XP_011539495.1:n.*17_*18delinsTG
NM_174936.4:c.*17_*18delinsTG MANE Select NP_777596.2:n.*17_*18delinsTG
NR_110451.2:n.1703_1704delinsTG