Canonical Allele Identifier: CA1167984985
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059725_55059727delinsCCG , CM000663.2:g.55059725_55059727delinsCCG GRCh38
NC_000001.10:g.55525398_55525400delinsCCG , CM000663.1:g.55525398_55525400delinsCCG GRCh37
NC_000001.9:g.55297986_55297988delinsCCG NCBI36
NG_009061.1:g.25179_25181delinsCCG , LRG_275:g.25179_25181delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+62_1681+64delinsCCG ENSP00000501161.2:n.1681+62_1681+64delinsCCG
ENST00000710286.1:c.2038+62_2038+64delinsCCG ENSP00000518176.1:n.2038+62_2038+64delinsCCG
ENST00000673903.1:c.1306+62_1306+64delinsCCG ENSP00000501257.1:n.1306+62_1306+64delinsCCG
ENST00000673913.1:c.421+62_421+64delinsCCG ENSP00000501161.1:n.421+62_421+64delinsCCG
ENST00000302118.5:c.1681+62_1681+64delinsCCG MANE Select ENSP00000303208.5:n.1681+62_1681+64delinsCCG
ENST00000490692.1:n.2227+1078_2227+1080delinsCCG
NM_174936.3:c.1681+62_1681+64delinsCCG , LRG_275t1:c.1681+62_1681+64delinsCCG NP_777596.2:n.1681+62_1681+64delinsCCG
NR_110451.1:n.1288+62_1288+64delinsCCG
XM_011541193.1:c.802+62_802+64delinsCCG XP_011539495.1:n.802+62_802+64delinsCCG
NM_174936.4:c.1681+62_1681+64delinsCCG MANE Select NP_777596.2:n.1681+62_1681+64delinsCCG
NR_110451.2:n.1288+62_1288+64delinsCCG