Canonical Allele Identifier: CA2645840436

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55063458-C-CAACACGTGTGTAGTCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063459_55063477dup , CM000663.2:g.55063459_55063477dup	GRCh38
NC_000001.10:g.55529132_55529150dup , CM000663.1:g.55529132_55529150dup	GRCh37
NC_000001.9:g.55301720_55301738dup	NCBI36
NG_009061.1:g.28913_28931dup , LRG_275:g.28913_28931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*294_*312dup	ENSP00000501161.2:n.*294_*312dup
ENST00000710286.1:c.2311_2329dup	ENSP00000518176.1:p.Ser777LysfsTer?
ENST00000673903.1:c.1579_1597dup	ENSP00000501257.1:p.Ser533LysfsTer?
ENST00000673913.1:c.804_822dup	ENSP00000501161.1:n.804_822dup
ENST00000302118.5:c.1954_1972dup MANE Select	ENSP00000303208.5:p.Ser658LysfsTer?
ENST00000490692.1:n.2500_2518dup
NM_174936.3:c.1954_1972dup , LRG_275t1:c.1954_1972dup	NP_777596.2:p.Ser658LysfsTer?
NR_110451.1:n.1561_1579dup
XM_011541193.1:c.1075_1093dup	XP_011539495.1:p.Ser365LysfsTer?
NM_174936.4:c.1954_1972dup MANE Select	NP_777596.2:p.Ser658LysfsTer?
NR_110451.2:n.1561_1579dup