Canonical Allele Identifier: CA2645841831

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059806-A-AGGCTCAAAGGGCATGGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059806_55059807insGGCTCAAAGGGCATGGAAG , CM000663.2:g.55059806_55059807insGGCTCAAAGGGCATGGAAG	GRCh38
NC_000001.10:g.55525479_55525480insGGCTCAAAGGGCATGGAAG , CM000663.1:g.55525479_55525480insGGCTCAAAGGGCATGGAAG	GRCh37
NC_000001.9:g.55298067_55298068insGGCTCAAAGGGCATGGAAG	NCBI36
NG_009061.1:g.25260_25261insGGCTCAAAGGGCATGGAAG , LRG_275:g.25260_25261insGGCTCAAAGGGCATGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1681+143_1681+144insGGCTCAAAGGGCATGGAAG	ENSP00000501161.2:n.1681+143_1681+144insGGCTCAAAGGGCATGGAAG
ENST00000710286.1:c.2038+143_2038+144insGGCTCAAAGGGCATGGAAG	ENSP00000518176.1:n.2038+143_2038+144insGGCTCAAAGGGCATGGAAG
ENST00000673903.1:c.1306+143_1306+144insGGCTCAAAGGGCATGGAAG	ENSP00000501257.1:n.1306+143_1306+144insGGCTCAAAGGGCATGGAAG
ENST00000673913.1:c.421+143_421+144insGGCTCAAAGGGCATGGAAG	ENSP00000501161.1:n.421+143_421+144insGGCTCAAAGGGCATGGAAG
ENST00000302118.5:c.1681+143_1681+144insGGCTCAAAGGGCATGGAAG MANE Select	ENSP00000303208.5:n.1681+143_1681+144insGGCTCAAAGGGCATGGAAG
ENST00000490692.1:n.2227+1159_2227+1160insGGCTCAAAGGGCATGGAAG
NM_174936.3:c.1681+143_1681+144insGGCTCAAAGGGCATGGAAG , LRG_275t1:c.1681+143_1681+144insGGCTCAAAGGGCATGGAAG	NP_777596.2:n.1681+143_1681+144insGGCTCAAAGGGCATGGAAG
NR_110451.1:n.1288+143_1288+144insGGCTCAAAGGGCATGGAAG
XM_011541193.1:c.802+143_802+144insGGCTCAAAGGGCATGGAAG	XP_011539495.1:n.802+143_802+144insGGCTCAAAGGGCATGGAAG
NM_174936.4:c.1681+143_1681+144insGGCTCAAAGGGCATGGAAG MANE Select	NP_777596.2:n.1681+143_1681+144insGGCTCAAAGGGCATGGAAG
NR_110451.2:n.1288+143_1288+144insGGCTCAAAGGGCATGGAAG