Canonical Allele Identifier: CA916181070
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1553137863

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059726_55059727delinsT , CM000663.2:g.55059726_55059727delinsT GRCh38
NC_000001.10:g.55525399_55525400delinsT , CM000663.1:g.55525399_55525400delinsT GRCh37
NC_000001.9:g.55297987_55297988delinsT NCBI36
NG_009061.1:g.25180_25181delinsT , LRG_275:g.25180_25181delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1681+63_1681+64delinsT ENSP00000501161.2:n.1681+63_1681+64delinsT
ENST00000710286.1:c.2038+63_2038+64delinsT ENSP00000518176.1:n.2038+63_2038+64delinsT
ENST00000673903.1:c.1306+63_1306+64delinsT ENSP00000501257.1:n.1306+63_1306+64delinsT
ENST00000673913.1:c.421+63_421+64delinsT ENSP00000501161.1:n.421+63_421+64delinsT
ENST00000302118.5:c.1681+63_1681+64delinsT MANE Select ENSP00000303208.5:n.1681+63_1681+64delinsT
ENST00000490692.1:n.2227+1079_2227+1080delinsT
NM_174936.3:c.1681+63_1681+64delinsT , LRG_275t1:c.1681+63_1681+64delinsT NP_777596.2:n.1681+63_1681+64delinsT
NR_110451.1:n.1288+63_1288+64delinsT
XM_011541193.1:c.802+63_802+64delinsT XP_011539495.1:n.802+63_802+64delinsT
NM_174936.4:c.1681+63_1681+64delinsT MANE Select NP_777596.2:n.1681+63_1681+64delinsT
NR_110451.2:n.1288+63_1288+64delinsT